Amyotrophic Lateral Sclerosis
Description
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
Genes related to Amyotrophic Lateral Sclerosis
- VCP
- DCTN1
- NEFH
- PRPH
- SOD1
- HNRNPA1
- FUS
- SQSTM1
- VAPB
- PON3
- PFN1
- PPARGC1A
- UNC13A
- OPTN
- DAO
- TREM2
- CCNF
- CHMP2B
- NEK1
- PON2
- ANXA11
- PON1
- GLE1
- ANG
- EPHA4
- TBK1
- MATR3
- FIG4
- TARDBP
- CFAP410
- ATXN2
- UBQLN2
- ERBB4
- CHCHD10
- TAF15
- C9orf72
Clinical Features
Top most frequent phenotypes and symptoms related to Amyotrophic Lateral Sclerosis
- Microcephaly
- Muscle weakness
- Pain
- Cataract
- Spasticity
- Hyperreflexia
- Skeletal muscle atrophy
- Fatigue
- Dysphagia
- Depressivity
And another 37 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available AMYOTROPHIC LATERAL SCLEROSIS have a estimated incidence of 1.35 per 100k in Europe.— No data available about the known clinical features onset.
Alternative names
Amyotrophic Lateral Sclerosis Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial.
Researches and researchers
Doctors, researchs, and experts related to Amyotrophic Lateral Sclerosis extracted from public data.
Amyotrophic Lateral Sclerosis Experts map
Current Researchs and researchers
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Investigator of research projectLEUVEN — Pr Catherine VERFAILLIE
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Institution/s:
— Department of Development and Regeneration, University Hospitals Leuven - Gasthuisberg -
Research area/topic::
Identification of defects in oligodendrocytes (OL) in familial and sporadic ALS and creation of an all human OL-neuron coculture system for screens of novel drugs that correct OL defects
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Institution/s:
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Coordinator of expert centre - Principal investigator of clinical trial - Investigator of clinical trial - Investigator of research projectLEUVEN — Pr Philip VAN DAMME
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Institution/s:
— Department of Neurology, University Hospitals Leuven - Gasthuisberg -
Research area/topic::
Translational research on the role of ephrin system in the pathogenesis of amyotrophic lateral sclerosis
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Institution/s:
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Investigator of research projectLEUVEN — Pr Ludo VAN DEN BOSCH
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Institution/s:
— Research Group Experimental Neurology (Neurology Department), University Hospitals Leuven - Gasthuisberg -
Research area/topic::
Preclinical testing of histone deacetylase 6 (HDAC6) inhibitors in a FUS mouse model of amyotrophic lateral sclerosis (ALS)
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Institution/s:
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Investigator of research projectEDMONTON — Dr Sanjay KALRA
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Institution/s:
— University of Alberta -
Research area/topic::
MRI biomarkers in ALS
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Institution/s:
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Investigator of research projectEDMONTON — Dr Kelvin E JONES
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Institution/s:
— University of Alberta -
Research area/topic::
Promoting protection of functionally intact motor units in amyotrophic lateral sclerosis (ALS).
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Institution/s:
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Coordinator of research networkMONTRÉAL — Dr Heather DURHAM
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Institution/s:
— McGill Department of Neurology, Montreal Neurological Institute and Hospital -
Research area/topic::
RNA-ALS: Dysregulation of RNA in the pathogenesis of ALS
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Institution/s:
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Investigator of research projectMONTRÉAL — Dr Pierre DRAPEAU
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Institution/s:
— Centre Hospitalier de l'Université de Montréal -
Research area/topic::
Synaptic targets for therapeutic protection of motor function in a genetic model of ALS
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Institution/s:
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Investigator of research projectMONTRÉAL — Dr Stefano STIFANI
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Institution/s:
— Montreal Neurological Institute and Hospital -
Research area/topic::
Regulation of motor neuron identity and circuit development
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Institution/s:
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Investigator of research projectOTTAWA — Dr Johnny K NGSEE
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Institution/s:
— Ottawa Hospital Research Institute -
Research area/topic::
Loss of VAPB Function in Amyotrophic Lateral Sclerosis-8 (ALS8)
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Institution/s:
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Coordinator of research networkTORONTO — Ms Jane MCKINLEY
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Institution/s:
— Sunnybrook Health Sciences Centre -
Research area/topic::
Canadian ALS Research Network (CALS)
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Institution/s:
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Investigator of research projectTORONTO — Dr Janice ROBERTSON
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Institution/s:
— University of Toronto -
Research area/topic::
The TAR DNA-Binding Protein (TDP-43) and Amyotrophic Lateral Sclerosis
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Institution/s:
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Investigator of research projectVANCOUVER — Dr Steve S PLOTKIN
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Institution/s:
— University of British Columbia -
Research area/topic::
Computation and theory to predict structures and mechanisms for protein misfolding in amyotrophic lateral sclerosis
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Institution/s:
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Investigator of research projectWATERLOO — Pr Elizabeth M MEIERING
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Institution/s:
— University of Waterloo -
Research area/topic::
Folding and aggregation of ALS-associated mutant superoxide dismutases
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Institution/s:
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Investigator of research projectHELSINKI — Dr Merja VOUTILAINEN
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Institution/s:
— Biocenter 1, University of Helsinki -
Research area/topic::
CDNF and MANF in genetic models of ALS
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Institution/s:
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Investigator of research projectBORDEAUX — Ms Anne-Cécile WIELANEK-BACHELET
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Institution/s:
— CHU - Hôpitaux de Bordeaux -
Research area/topic::
Study of the Expression of Micro-RNA as Biomarker Diagnosis and Prognosis in Amyotrophic Lateral Sclerosis- FR
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Institution/s:
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Investigator of research projectBORDEAUX CEDEX — Pr Pascal BRANCHEREAU
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Institution/s:
— Institut de Neurosciences cognitives et intégratives d'Aquitaine INCIA -
Research area/topic::
Bumetanide treatment of the early alteration of chloride homeostasis in ALS mouse spinal motoneurons
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Institution/s:
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Coordinator of expert centre - Clinical expert - Investigator of research projectCLERMONT-FERRAND — Dr Corinne BOUTELOUP
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Institution/s:
— CHU de Clermont-Ferrand - Hôpital d'Estaing -
Research area/topic::
Study of Mitochondrial Functions and Oxidative Stress in ALS Patients
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Institution/s:
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Investigator of research project - Coordinator of research networkDIJON — Mr David MONCHAUD
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Institution/s:
— Faculté des Sciences de Santé -
Research area/topic::
DEMENTIA : Exploiting genetic biomarkers of neurodegenerative diseases for developing early diagnostic tests and possible treatments - FR
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Institution/s:
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Investigator of research project - Coordinator of research networkGRENOBLE — Mr Vincent BONNETERRE
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Institution/s:
— Pôle Psychiatrie, Neurologie et Rééducation Neurologique, CHU de Grenoble site Nord - Hôpital Albert Michallon -
Research area/topic::
First study in France searching a link between Amyotrophic Lateral Sclerosis (ALS) and beta-N-methylamino-L-alanine (BMAA) cyanotoxin
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Institution/s:
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Clinical expert - Investigator of research project - Coordinator of research networkGRENOBLE — Dr Emmeline LAGRANGE
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Institution/s:
— Pôle Psychiatrie, Neurologie et Rééducation Neurologique, CHU de Grenoble site Nord - Hôpital Albert Michallon -
Research area/topic::
First study in France searching a link between Amyotrophic Lateral Sclerosis (ALS) and beta-N-methylamino-L-alanine (BMAA) cyanotoxin
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Institution/s:
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Investigator of research project - Coordinator of research networkILLKIRCH-GRAFFENSTADEN — Dr Nicolas CHARLET-BERGUERAND
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Institution/s:
— IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC -
Research area/topic::
C9ORF72-ALS : Role of C9ORF72 in Amyotrophic Lateral Sclerosis - FR
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Institution/s:
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Coordinator of expert centre - Clinical expert - Investigator of research projectLILLE — Dr David DEVOS
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Institution/s:
— Pôle Santé Publique, Pharmacie et Pharmacologie, CHRU de Lille -
Research area/topic::
GIFT-ALS: Growth factor preparations From plaTelets-Amyotrophic Lateral Sclerosis
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Institution/s:
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Investigator of research projectLILLE — Dr Thierry PEREZ
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Institution/s:
— Pôle Cardiovasculaire et Pulmonaire, CHRU de Lille - Hôpital Albert Calmette -
Research area/topic::
Potential role for nocturnal PtcCO2 monitoring in the close follow up of amyotrophic lateral sclerosis patients
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Institution/s:
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Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project - Coordinator of research networkLIMOGES — Pr Philippe COURATIER
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Institution/s:
— EA3174, Faculté de médecine de Limoges
— CHU de Limoges - Hôpital Dupuytren
— CHU de Limoges - Hôpital Dupuytren -
Research area/topic::
BMAALS: First study in France seraching a link between Amyotrophic Lateral Sclerosis and BMAA's cyanotoxin
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Institution/s:
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Investigator of research projectLIMOGES CEDEX — Dr Luna JAIME
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Institution/s:
— Faculté des Sciences et Techniques -
Research area/topic::
Population-based study to compare ALS incidence, mortality rates and phenotype between European and Hispanic populations in relation to genetic ancestral origin
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Institution/s:
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Investigator of research project - Coordinator of research networkMARSEILLE — Dr Cédric RAOUL
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Institution/s:
— INSERM UMR 901, Parc scientifique et technologiques de Luminy
— CHU de Montpellier - Hôpital Saint-Eloi -
Research area/topic::
FaSMALS : Common Pathogenic Pathways and Therapeutics for SMA and ALS motoneuron diseases - FR
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Institution/s:
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Investigator of research project - Coordinator of research networkMARSEILLE — Ms Rebecca PRUSS
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Institution/s:
— Parc scientifique et technologiques de Luminy -
Research area/topic::
MITOTARGET: mitochondrial dysfunction in neurodegenerative diseases: towards new therapeutics
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Institution/s:
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Investigator of research projectMARSEILLE — Dr Brigitte PETTMANN
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Institution/s:
— UMR6216 - CNRS - université de la Méditerranée, Parc scientifique et technologiques de Luminy -
Research area/topic::
MITOTARGET: mitochondrial apoptotic pathways in neurodegenerative diseases and assessment of the effects of new small molecules (WP4)
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Institution/s:
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Investigator of research projectMARSEILLE — Mr Julien VEYS
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Institution/s:
— Parc scientifique et technologiques de Luminy -
Research area/topic::
MITOTARGET: dysfonction mitochondriale dans les maladies neurodégénératives: vers de nouvelles thérapies (coordination)
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Institution/s:
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Investigator of research project - Coordinator of research networkMONTPELLIER — Dr Cédric RAOUL
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Institution/s:
— INSERM UMR 901, Parc scientifique et technologiques de Luminy
— CHU de Montpellier - Hôpital Saint-Eloi -
Research area/topic::
FaSMALS : Common Pathogenic Pathways and Therapeutics for SMA and ALS motoneuron diseases - FR
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Institution/s:
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Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research projectMONTPELLIER — Pr William CAMU
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Institution/s:
— Département de Neurologie, CHRU de Montpellier - Hôpital Gui de Chauliac
— Département Neurologie, CHRU de Montpellier - Hôpital Gui de Chauliac -
Research area/topic::
ALS in Herault: epidemiology ans exposure into and outside the thau cluster
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Institution/s:
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Investigator of research projectMONTPELLIER — Pr Florence PERRIN
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Institution/s:
— CHU de Montpellier - Hôpital Saint-Eloi -
Research area/topic::
From knowledge base of the pathogenic astrocyte-motoneuron communication in amyotrophic lateral sclerosis to therapeutic approaches
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Institution/s:
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Investigator of research projectORLÉANS — Dr Helène BENEDETTI
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Institution/s:
— UPR4301 Centre de biophysique moléculaire (CBM) -
Research area/topic::
Evaluation of new inhibitors of LIMK1 and LIMK2, kinases of the Rho-GTPase pathway, in a mouse model of amyotrophic lateral sclerosis
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Institution/s:
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Coordinator of expert centre - Clinical expert - Clinical geneticist - Investigator of research project - Coordinator of research networkPARIS — Pr Alexandra DURR
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Institution/s:
— Centre de génétique moléculaire et chromosomique, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
— Service de Génétique clinique et Médicale, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
— Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière -
Research area/topic::
The issue of prenatal / preimplantation diagnosis in parentage information in neurogenetic and neuromuscular dominant diseases
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Institution/s:
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Investigator of research project - Coordinator of research networkPARIS — Dr Vincent EL GHOUZZI
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Institution/s:
— Unité INSERM U 1141 - Neuroprotection du cerveau en développement, CHU Paris - Hôpital Robert Debré -
Research area/topic::
MitoMotor: CHCHD10 mutations: how mitochondrial dysfunction leads to motor neuron disease
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Institution/s:
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Clinical expert - Investigator of research projectPARIS — Dr Pierre François PRADAT
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Institution/s:
— CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
— Département de Neurologie - Pôle des Maladies du Système Nerveux, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
— CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière -
Research area/topic::
From Movement Preparation to Gait Execution in ALS: : Combined Neurophysiological and Neuroimaging Approaches - FR
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Institution/s:
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Investigator of research projectPARIS — Dr GAELLE BRUNETEAU
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Institution/s:
— Département de Neurologie - Pôle des Maladies du Système Nerveux, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière -
Research area/topic::
Presymptomatic neuromuscular junction defects and compensatory mechanisms in ALS
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Institution/s:
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Investigator of research projectPARIS — Dr Chiara ZURZOLO
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Institution/s:
— Azienda Ospedaliera Universitaria "Federico II"
— Département de Biologie cellulaire et infection, Institut Pasteur -
Research area/topic::
Role of TDP-43 in ALS pathogenesis: understanding TDP-43 aggregates neurotoxicity and the role of tunneling nanotubes in their spreading
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Institution/s:
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Investigator of research projectPARIS — Dr Martine BARKATS
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Institution/s:
— Institut de Myologie - Hôpital Pitié-Salpêtrière -
Research area/topic::
New gene therapy for C9ORF72-linked ALS-FTD
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Institution/s:
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Investigator of research projectPARIS — Dr Christian LOBSIGER
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Institution/s:
— Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière -
Research area/topic::
Peripheral macrophages as a promising target to modulate ALS disease progression
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Institution/s:
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Investigator of research projectPARIS — Dr Stephanie MILLECAMPS
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Institution/s:
— Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière -
Research area/topic::
Gene hunting in familial Amyotrophic Lateral Sclerosis
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Institution/s:
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Coordinator of expert centre - Clinical expert - Investigator of research projectPARIS — Dr François SALACHAS
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Institution/s:
— Département de Neurologie - Pôle des Maladies du Système Nerveux, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
— Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière -
Research area/topic::
Project SOPHIA: Sampling and biomarker OPtimization and Harmonization In ALS and other motor neuron diseases - FR
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Institution/s:
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Investigator of research projectPARIS — Dr Séverine BOILLEE
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Institution/s:
— Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière -
Research area/topic::
Study of the interactions between microglial cells, macrophages and neurons from three axes in an animal model of amyotrophic lateral sclerosis
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Institution/s:
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Investigator of research projectPARIS — Ms Aude CHIOT
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Institution/s:
— Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière -
Research area/topic::
Implication of peripheral macrophages in ALS
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Institution/s:
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Responsible for diagnostic tests - Investigator of research project - Coordinator of research network - Director of laboratoryPARIS — Dr Eric LE GUERN
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Institution/s:
— Centre de génétique moléculaire et chromosomique, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
— Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
— Centre de Génétique Moléculaire et Chromosomique, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière -
Research area/topic::
Localisation and identification of causative genes for amyotrohic lateral sclerosis
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Institution/s:
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Investigator of research projectPARIS — Ms Hortense DE CALBIAC
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Institution/s:
— Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière -
Research area/topic::
Study of the pathological consequences of the loss of function of the C9ORF72 gene and its implication in autophagy
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Institution/s:
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Clinical expert - Investigator of research project - Coordinator of research networkPARIS — Dr Isabelle LE BER
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Institution/s:
— Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
— Centre des maladies cognitives et comportementales, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
— Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière -
Research area/topic::
Predict to prevent frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS)
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Institution/s:
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Investigator of research projectPARIS — Dr Daniel ZYTNICKI
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Institution/s:
— Université Paris Descartes - Paris 5 -
Research area/topic::
Can a spinal interneuropathy contribute to motoneuron degeneration in ALS? An electrophysiological study on patients and mouse models of ALS
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Institution/s:
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Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratoryPOISSY — Pr François VIALARD
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Institution/s:
— Histologie embryologie, biologie de la reproduction, cytogénétique et génétique médicale, Centre hospitalier intercommunal Poissy-Saint-Germain-en-Laye
— Service histo-embryologie, cytogénétique, génétique médicale et biologie de la reproduction, Centre hospitalier intercommunal Poissy-Saint-Germain-en-Laye -
Research area/topic::
Identification and characterization of gene mutations in patients with azoospermia by maturation
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Institution/s:
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Investigator of research project - Coordinator of research networkSTRASBOURG — Dr Luc DUPUIS
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Institution/s:
— Université de Strasbourg, Faculté de médecine de Strasbourg - Louis Pasteur -
Research area/topic::
ToFU: Interactions between TAU, FUS and TDP-43 in neurodegenerative diseases - FR
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Institution/s:
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Investigator of research projectSTRASBOURG — Dr Jean-Philippe LOEFFLER
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Institution/s:
— INSERM U 692, Faculté de médecine de Strasbourg - Louis Pasteur -
Research area/topic::
Involvement of metabolic dysfunctions in the pathogenesis of amyotrophic lateral sclerosis
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Institution/s:
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Responsible for diagnostic tests - Investigator of research projectTOURS — Pr Patrick VOURC'H
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Institution/s:
— CHRU de Tours - Hôpital Bretonneau -
Research area/topic::
SUMOylation and aggregation of TDP43: roles in the pathophysiology of amyotrophic lateral sclerosis
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Institution/s:
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Investigator of research projectVANDOEUVRE LES NANCY CEDEX — Dr Séverine MASSENET
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Institution/s:
— Institut des sciences de l'ingénierie et des systèmes -
Research area/topic::
Study of the functions of SMS and TDP-43, whose defectslead to Spinal Muscular Atrophy and Amyotrophic Lateral Sclérosis respectively, in the biogenesis of the small Cajal body-specific and small nucleolar RNPs
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Institution/s:
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Investigator of research project34091 — Dr Frédérique SCAMPS
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Institution/s:
— Institut des Neurosciences de Montpellier -
Research area/topic::
In vitro analysis of the neuromuscular junction in amyotrophic lateral sclerosis. Role of anoctamine 6
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Institution/s:
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Investigator of research project34095 — Dr Jean-Charles LIEVENS
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Institution/s:
— Mécanismes moléculaires dans les démences neurodégénératives (MMDN) -
Research area/topic::
thwart TDP-43-induced mitochondrial defects in amyotrophic lateral sclerosis
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Institution/s:
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Investigator of research project37032 — Dr Helène BLASCO
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Institution/s:
— Université de Tours -
Research area/topic::
New therapeutic strategy in ALS based on metabolic status and associated metabolic disorders
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Institution/s:
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Investigator of research project75270 — Dr MANUEL MARIN
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Institution/s:
— Centre de Neurophysique, Physiologie et Pathologie - CNRS UMR 8119 -
Research area/topic::
Is spinal motoneuron degeneration in ALS caused by their abnormal excitability?
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Institution/s:
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— Institution: Information not provided - DE
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Institution/s:
— Institution: Information not provided - DE -
Research area/topic::
MAIV: Investigation of time-dependent axon/muscle contacts and formation of mature neuromuscular end plates between human motor neurons
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Institution/s:
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Principal investigator of clinical trial - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Director of departmentAACHEN — Pr Jörg B. SCHULZ
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Institution/s:
— Universitätsklinikum Aachen
— Klinik für Neurologie, Universitätsklinikum Aachen
— Fakultät für Mathematik, Informatik und Naturwissenschaften, RWTH Aachen -
Research area/topic::
JPND - Fly-SMALS: Common RNA-dependent pathways for motor neuron degeneration in spinocerebellar muscular atrophy and amyotrophic lateral sclerosis (coordination)
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Institution/s:
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Investigator of research projectBONN — Dr Patrick WEYDT
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Institution/s:
— Universitätsklinikum Bonn -
Research area/topic::
Role of PGC-1A in the evolution of amyotrophic lateral sclerosis and effects of its regulation
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Institution/s:
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Investigator of research project - Coordinator of research networkDRESDEN — Dr Simon ALBERTI
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Institution/s:
— Max Planck Institute of Molecular Cell Biology and Genetics -
Research area/topic::
CureALS: Stress granules and proteostasis in motor neurons: towards a mechanistic understanding of ALS (coordination)
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Institution/s:
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Coordinator of expert centre - Clinical expert - Investigator of research projectESSEN — Dr Tim HAGENACKER
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Institution/s:
— Universitätsklinikum Essen
— Universitätsklinikum Essen -
Research area/topic::
Nutrition and Quality of Life in Amyotrophic Lateral Sclerosis
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Institution/s:
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Investigator of research projectFRANKFURT AM MAIN — Dr Walter E MULLER
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Institution/s:
— Johann Wolfgang Goethe-Universität Frankfurt -
Research area/topic::
MITOTARGET: mitochondrial membrane properties in the process of neurodegeneration and assessment of the effects of new small molecules (WP2)
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Institution/s:
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Coordinator of expert centre - Clinical expert - Investigator of research project - Coordinator of research networkGÖTTINGEN — Pr Paul LINGOR
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Institution/s:
— Universitätsmedizin Göttingen
— Universitätsmedizin Göttingen -
Research area/topic::
ROCK-ALS : Inhibition of Rho Kinase (ROCK) with Fasudil as disease-modifying treatment for ALS -DE-
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Institution/s:
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Investigator of research projectMÜNSTER — Dr Erik STORKEBAUM
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Institution/s:
— Max-Planck-Institut für Molekulare Biomedizin, Max-Planck-Gesellschaft -
Research area/topic::
REALS: Repurposed Enoxacin for the treatment of patients with Amyotrophic Lateral Sclerosis -DE-
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Institution/s:
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Investigator of research project - Director of laboratoryTÜBINGEN — Pr Philipp J KAHLE
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Institution/s:
— Zentrum für Neurologie, Hertie-Institut für klinische Hirnforschung (HIH) -
Research area/topic::
Cell Biology of the FTD/ALS Associated Nuclear Splice Factor TDP-43
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Institution/s:
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Clinical expert - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Contact person of registry - Manager of biobank/collection - Contact person of biobank/collection - Coordinator of research network - Director ofTÜBINGEN — Pr Olaf RIESS
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Institution/s:
— Institut für Medizinische Genetik und angewandte Genomik Tübingen
— Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen -
Research area/topic::
MITOTARGET: in vivo evidence of mitochondrial-targeted therapeutics (WP5)
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Institution/s:
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Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project - Manager of registry - Coordinator of research networkULM — Pr Albert Christian LUDOLPH
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Institution/s:
— Universitäts- und Rehabilitationskliniken Ulm (RKU)
— Zentrum für Seltene Erkrankungen am Universitätsklinikum Ulm -
Research area/topic::
Epidemiology of motoneuron diseases - A case-control study
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Institution/s:
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Clinical expert - Investigator of research projectULM — Pr Jochen H. WEISHAUPT
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Institution/s:
— Universitäts- und Rehabilitationskliniken Ulm (RKU)
— Zentrum für Seltene Erkrankungen am Universitätsklinikum Ulm -
Research area/topic::
MULTIMONO : A multicentric approach to monocyte alterations in ALS
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Institution/s:
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Clinical expert - Principal investigator of clinical trial - Investigator of research projectULM — Pr Markus OTTO
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Institution/s:
— Universitäts- und Rehabilitationskliniken Ulm (RKU)
— Zentrum für Seltene Erkrankungen am Universitätsklinikum Ulm -
Research area/topic::
Aggregated-TDP43: Detection of disease specific aggregates of TDP-43 in cerebrospinal fluid of ALS patients for disease specific diagnosis
-
Institution/s:
-
Coordinator of expert centre - Clinical expert - Investigator of clinical trial - Investigator of research project - ResearcherDUBLIN — Pr Orla HARDIMAN
-
Institution/s:
— Neurology Department, Beaumont Hospital
— Trinity College Dublin
— Trinity College Dublin -
Research area/topic::
Behavioral Changes in ALS: What Families and Health Care Professionals need to know
-
Institution/s:
-
Coordinator of research networkREHOVOT — Dr Eran HORNSTEIN
-
Institution/s:
— Arnold R. Meyer Institute of Biological Sciences, Weizmann Institute of Science -
Research area/topic::
REALS: Repurposed Enoxacin for the treatment of patients with Amyotrophic Lateral Sclerosis
-
Institution/s:
-
Investigator of research project - Coordinator of research networkTEL AVIV — Dr Eran PERLSON
-
Institution/s:
— Sackler Faculty of Medicine, University of Tel-Aviv -
Research area/topic::
ALS-degeneration: The molecular basis for neurodegeneration and muscle atrophy in ALS - IL
-
Institution/s:
-
Investigator of research projectBARI — Pr Maria BARILE
-
Institution/s:
— Dipartimento di Bioscienze Biotecnologie e Scienze Farmacologiche, Università degli Studi di Bari Aldo Moro -
Research area/topic::
Amyotrophic lateral sclerosis (SLA) and riboflavin responsive multiple Acyl-CoA dehydrogenase deficiency (RR-MADD)
-
Institution/s:
-
Clinical expert - Investigator of research projectMILANO — Dr Stefania CORTI
-
Institution/s:
— Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
— Dipartimento di Neuroscienze e Salute Mentale, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico -
Research area/topic::
Modulating motor neuron vulnerability using the oculomotor restricted genes IGF-2 and SYT13 for ALS therapy
-
Institution/s:
-
Investigator of research projectMILANO — Dr Caterina BENDOTTI
-
Institution/s:
— Dipartimento di Neuroscienze, Istituto di Ricerche Farmacologiche "Mario Negri" -
Research area/topic::
Preclinical studies aimed to develop target genes based therapies for the treatment of amyotrophic lateral sclerosis
-
Institution/s:
-
Investigator of research projectMILANO — Dr Valentina BONETTO
-
Institution/s:
— Istituto di Ricerche Farmacologiche "Mario Negri" -
Research area/topic::
Novel biomarkers of amyotrophic lateral sclerosis: role in pathogenesis and possible therapeutic targets
-
Institution/s:
-
Investigator of research projectNAPOLI — Dr Chiara ZURZOLO
-
Institution/s:
— Azienda Ospedaliera Universitaria "Federico II"
— Département de Biologie cellulaire et infection, Institut Pasteur -
Research area/topic::
Role of TDP-43 in ALS pathogenesis: understanding TDP-43 aggregates neurotoxicity and the role of tunneling nanotubes in their spreading
-
Institution/s:
-
Investigator of research projectPALERMO — Dr Patrizia GUARNERI
-
Institution/s:
— Istituto di Biomedicina e Immunologia Molecolare, Consiglio Nazionale delle Ricerche -
Research area/topic::
Biological and genetic variables in the pathogenesis and clinical progression of amyotrophic lateral sclerosis: identification of biomarkers
-
Institution/s:
-
Investigator of research projectPAVIA — Dr Daniela Maria M. ROSSI
-
Institution/s:
— Centro di Medicina Molecolare, Fondazione Salvatore Maugeri -
Research area/topic::
Novel therapeutic strategies for Spinal Muscular Atrophy: testing the efficacy of cell-permeable peptides in preclinical models
-
Institution/s:
-
Investigator of research projectROMA — Pr Maria Teresa CARRI
-
Institution/s:
— Centro Europeo di Ricerca sul Cervello -
Research area/topic::
Study of the function of mitochondria in mouse models of familial amyotrophic lateral sclerosis associated with the mutations in the SOD1 gene through genetic manipulation of the P66SHC molecular pathway
-
Institution/s:
-
Investigator of research projectROMA — Dr Alberto LOIZZO
-
Institution/s:
— Centro Nazionale Malattie Rare, ISS - Istituto Superiore di Sanità -
Research area/topic::
Proposal for an integrated approach to rare diseases: a study between basic laboratory models and clinical epidemiology in amyotrophic lateral sclerosis (ALS)
-
Institution/s:
-
Coordinator of expert centre - Investigator of research projectTORINO — Pr Adriano CHIO'
-
Institution/s:
— Dipartimento di Neuroscienze - S.C. Neurologia 4, Ospedale Molinette -
Research area/topic::
Evaluation of disease onset and disease stage/severity in patients with amyotrophic lateral sclerosis using FDG-PET imaging (INSPIRED) - IT
-
Institution/s:
-
Investigator of research project - Coordinator of research networkUTRECHT — Dr J.H. [Jan] VELDINK
-
Institution/s:
— Rudolf Magnus Institute Stratenum -
Research area/topic::
PYRAMID: Phenotype Research for ALS modifyer discovery
-
Institution/s:
-
Clinical expert - Principal investigator of clinical trial - Investigator of clinical trial - Manager of registry - Coordinator of expert centre network - Coordinator of research networkUTRECHT — Pr L.H. [Leonard] VAN DEN BERG
-
Institution/s:
— Divisie Hersenen, UMC Utrecht - Universitair Medisch Centrum Utrecht
— UMC Utrecht - Universitair Medisch Centrum Utrecht
— UMC Utrecht - Universitair Medisch Centrum Utrecht -
Research area/topic::
Project SOPHIA: Sampling and biomarker OPtimization and Harmonization In ALS and other motor neuron diseases
-
Institution/s:
-
Investigator of research projectLISBOA — Mr Joaquim RIBEIRO
-
Institution/s:
— Instituto de Medicina Molecular - Faculdade de Medicina da Universidade de Lisboa, Faculdade de Medicina da Universidade de Lisboa -
Research area/topic::
Crosstalk between neurotrophic factor receptors (TrkB) and adenosine A2A receptors: implications for Amyotrophic Lateral Sclerosis (ALS).
-
Institution/s:
-
Clinical expert - Principal investigator of clinical trial - Investigator of research project - Director of laboratoryLISBOA — Pr Mamede DE CARVALHO
-
Institution/s:
— Departamento de Neurociências, Hospital de Sta. Maria - Centro Hospitalar de Lisboa Norte, EPE.
— Instituto de Medicina Molecular - Faculdade de Medicina da Universidade de Lisboa, Faculdade de Medicina da Universidade de Lisboa
— Serviço de Neurologia, Hospital de Sta. Maria - Centro Hospitalar de Lisboa Norte, EPE. -
Research area/topic::
Respiratory Rehabilitation in Amyotrophic Lateral Sclerosis: clinical and biochemical impact.
-
Institution/s:
-
Investigator of research project - Director of laboratoryOEIRAS — Pr Cláudio M GOMES
-
Institution/s:
— Instituto de Tecnologia Química e Biológica da Universidade Nova de Lisboa, Instituto de Tecnologia Química e Biológica -
Research area/topic::
Mechanisms of SOD1 toxic aggregation in neurodegenerative processes
-
Institution/s:
-
Clinical expert - Principal investigator of clinical trial - Investigator of research projectBARCELONA — Dr Ricard ROJAS GARCÍA
-
Institution/s:
— Hospital de la Santa Creu i Sant Pau -
Research area/topic::
Identification of diagnostic biomarkers for amyotrophic lateral esclerosis
-
Institution/s:
-
Investigator of research projectMADRID — Dr Jose Luis URCELAY SEGURA
-
Institution/s:
— Hospital General Universitario Gregorio Marañón -
Research area/topic::
Relationship Between Neurological Disability and Visual Impairment in Patients With ALS or Friedreich's Ataxia - ES
-
Institution/s:
-
Investigator of clinical trial - Investigator of research projectMADRID — Pr Javier FERNÁNDEZ RUIZ
-
Institution/s:
— Dpto. Bioquímica y Biología Molecular, Universidad Complutense de Madrid. Facultad de Medicina -
Research area/topic::
Potential of cannabinoids as neuroprotective agents in neurodegenerative disorders: Huntington disease, amyotrophic lateral sclerosis and spinocerebellar ataxia, types 2 and 3
-
Institution/s:
-
Investigator of research projectMADRID — Pr José Antonio RAMOS ATANCE
-
Institution/s:
— Dpto. Bioquímica y Biología Molecular, Universidad Complutense de Madrid. Facultad de Medicina -
Research area/topic::
Potential of cannabinoids as neuroprotective agents in neurodegenerative disorders: Huntington disease, amyotrophic lateral sclerosis and spinocerebellar ataxia, types 2 and 3
-
Institution/s:
-
Investigator of research projectSTOCKHOLM — Pr Mikael OLIVEBERG
-
Institution/s:
— Stockholm University -
Research area/topic::
In vitro molecular mechanism of amyotrophic lateral sclerosis
-
Institution/s:
-
Investigator of research projectUMEÅ — Dr Thomas BRÄNNSTRÖM
-
Institution/s:
— Umeå University -
Research area/topic::
Disease mechanisms in amyotrophic lateral sclerosis and frontotemporal lobar degeneration
-
Institution/s:
-
Investigator of research projectUMEÅ — Pr Stefan MARKLUND
-
Institution/s:
— Umeå University -
Research area/topic::
Studies of misfolded SOD1 in amyotrophic lateral sclerosis (ALS)
-
Institution/s:
-
Investigator of research projectUMEÅ — Pr Fatima PEDROSA DOMELLÖF
-
Institution/s:
— University Hospital of Umeå -
Research area/topic::
Molecular portfolio of the extraocular muscles: clues to protection in muscular disease
-
Institution/s:
-
Investigator of research projectUMEÅ — Pr Peter ANDERSEN
-
Institution/s:
— University Hospital of Umeå -
Research area/topic::
Genetic factors causing sporadic and familial amyotrophic lateral sclerosis (ALS/MND) with or without dementia
-
Institution/s:
-
Coordinator of research networkGENÈVE — Pr Karl-Heinz KRAUSE
-
Institution/s:
— Département de Pathologie et Immunologie, Centre Médical Universitaire - CMU -
Research area/topic::
NEURINOX: NOX enzymes as mediators of inflammation-triggered neurodegeneration: modulating NOX enzymes as novel therapies
-
Institution/s:
-
Investigator of research projectBRIGHTON — Pr Keith CALDECOTT
-
Institution/s:
— University of Sussex -
Research area/topic::
Amyotrophic Lateral Sclerosis and the DNA Damage Response
-
Institution/s:
-
Coordinator of research networkCAMBRIDGE — Pr James FAWCETT
-
Institution/s:
— University of Cambridge, John van Geest Centre for Brain Repair -
Research area/topic::
EUNEURONE: European Consortium for Research in Neurodegenerative Diseases
-
Institution/s:
-
Investigator of research projectEDINBURGH — Dr Arpan R MEHTA
-
Institution/s:
— University of Edinburgh -
Research area/topic::
Cellular and molecular insights into neurodegeneration mediated by the C9orf72 gene mutation amyotrophic lateral sclerosis
-
Institution/s:
-
Investigator of research projectHEADINGTON — Mr David GORDON
-
Institution/s:
— Medical science division, University of Oxford, John Radcliffe Hospital, University of Oxford -
Research area/topic::
The contribution of cell autonomous and non-cell autonomous effects of mutant TDP-43 to disease onset and progression in a novel transgenic mouse model of ALS
-
Institution/s:
-
Investigator of research projectHEADINGTON — Dr Kevin TALBOT
-
Institution/s:
— Medical science division, University of Oxford, John Radcliffe Hospital, University of Oxford
— Department of Physiology Anatomy & Genetics, Le Gros Clark Building - University of Oxford
— Department of Physiology, Anatomy and Genetics, Le Gros Clark Building - University of Oxford -
Research area/topic::
Identifying effectors of mutant C9Orf72 ALS/FTD to combat neurodegeneration
-
Institution/s:
-
Investigator of research projectLONDON — Pr Chris SHAW
-
Institution/s:
— National Hospital for Neurology and Neurosurgery
— The James Black Centre, The Institute of Psychiatry, King's College London School of Medicine -
Research area/topic::
Development of a diagnostic test for familial amyotrophic lateral sclerosis type 6 through mutation screening in FUS gene
-
Institution/s:
-
Investigator of research projectLONDON — Dr Ivo LIEBERAM
-
Institution/s:
— Division of Genetics and Molecular Medicine, Kings College School of Medicine -
Research area/topic::
Modelling peripheral axonal pathology of ALS in vitro - Assembly of optogenetic neuromuscular circuits from pluripotent stem cells
-
Institution/s:
-
Investigator of research projectLONDON — Pr Elisabeth FISCHER
-
Institution/s:
— The National Hospital For Neurology and Neurosurgery -
Research area/topic::
Study the role of TDP43, a new gene mutation identified recently for amyotrophic lateral sclerosis in motor neurons
-
Institution/s:
-
Investigator of research projectLONDON — Pr Elizabeth FISHER
-
Institution/s:
— The National Hospital For Neurology and Neurosurgery
— Institution: Information not provided - UK
— UCL Institute of Neurology, University College London, -
Research area/topic::
Novel and bespoke mouse models for dissecting neurodegenerative disease
-
Institution/s:
-
Investigator of research projectLONDON — Dr Pietro FRATTA
-
Institution/s:
— UCL Institute of Neurology, University College London,
— Faculty of Medical Sciences Newcastle University -
Research area/topic::
Investigating deficits of axonal RNA metabolism and axonal signalling in amyotrophic lateral sclerosis
-
Institution/s:
-
Investigator of research projectLONDON — Mr Marco BEATO
-
Institution/s:
— UCL Institute of Neurology, University College London, -
Research area/topic::
Beyond the neuromuscular junction: dysfunction of spinal synaptic targets of motoneurons in Amyotrophic Lateral Sclerosis
-
Institution/s:
-
Investigator of research projectNEWCASTLE-UPON-TYNE — Dr Pietro FRATTA
-
Institution/s:
— UCL Institute of Neurology, University College London,
— Faculty of Medical Sciences Newcastle University -
Research area/topic::
Investigating deficits of axonal RNA metabolism and axonal signalling in amyotrophic lateral sclerosis
-
Institution/s:
-
Investigator of research projectNYI UK — Pr Elizabeth FISHER
-
Institution/s:
— The National Hospital For Neurology and Neurosurgery
— Institution: Information not provided - UK
— UCL Institute of Neurology, University College London, -
Research area/topic::
Novel and bespoke mouse models for dissecting neurodegenerative disease
-
Institution/s:
-
Investigator of research projectOXFORD — Dr Kevin TALBOT
-
Institution/s:
— Medical science division, University of Oxford, John Radcliffe Hospital, University of Oxford
— Department of Physiology Anatomy & Genetics, Le Gros Clark Building - University of Oxford
— Department of Physiology, Anatomy and Genetics, Le Gros Clark Building - University of Oxford -
Research area/topic::
Identifying effectors of mutant C9Orf72 ALS/FTD to combat neurodegeneration
-
Institution/s:
-
Investigator of research projectOXFORD — Pr Martin TURNER
-
Institution/s:
— Department of Physiology, Anatomy and Genetics, Le Gros Clark Building - University of Oxford -
Research area/topic::
Developing The Oxford Study for Biomarkers in Motor Neuron Disease (BioMOx): Capturing pre-symptomatic events and advancing clinical translation
-
Institution/s:
-
Investigator of research projectOXFORD — Dr Jakub SCABER
-
Institution/s:
— Department of Physiology, Anatomy and Genetics, Le Gros Clark Building - University of Oxford -
Research area/topic::
The pathophysiological role of TDP43 in amyotrophic lateral sclerosis due to C9orf72 mutations
-
Institution/s:
-
Investigator of research projectOXFORD — Pr Matthew J WOOD
-
Institution/s:
— Department of Physiology, Anatomy and Genetics, Le Gros Clark Building - University of Oxford
— University of Oxford -
Research area/topic::
Antisense Oligonucleotide Therapy for Neuromuscular Disease
-
Institution/s:
-
Investigator of research projectSHEFFIELD — Dr Kurt DE VOS
-
Institution/s:
— Sheffield Institute of Translational Neuroscience, University of Sheffield -
Research area/topic::
The role of Miro and PKC signalling in axonal transport defects in amyotrophic lateral sclerosis.
-
Institution/s:
-
Investigator of research projectSHEFFIELD — Dr Andrew GRIERSON
-
Institution/s:
— Sheffield Institute of Translational Neuroscience, University of Sheffield -
Research area/topic::
MITOTARGET: mitochondrial dynamics in neurodegenerative diseases and assessment of the effects of new small molecules (WP1)
-
Institution/s:
-
Investigator of research projectSHEFFIELD — Dr Ke NING
-
Institution/s:
— Sheffield Institute of Translational Neuroscience, University of Sheffield -
Research area/topic::
Investigating mechanistic causes of C9ORF72-related amyotrophic lateral sclerosis (ALS).
-
Institution/s:
-
Investigator of research projectSHEFFIELD — Ms Laura FERRAIUOLO
-
Institution/s:
— Sheffield Institute of Translational Neuroscience, University of Sheffield -
Research area/topic::
Investigating the role of exosomal RNA in C9orf72 astrocyte toxicity - moving towards gene therapy approaches
-
Institution/s:
-
Principal investigator of clinical trial - Investigator of research projectSHEFFIELD — Pr Pamela J SHAW
-
Institution/s:
— University of Sheffield, E Floor Medical School, The Medical School - University of Sheffield -
Research area/topic::
MITOTARGET: mitochondrial metabolic function and oxidative stress in neurodegenerative diseases and assessment of the effects of new small molecules (WP3)
-
Institution/s:
-
Investigator of research projectBOSTON — Pr Neil R CASHMAN
-
Institution/s:
— Children's Hospital Boston, Boston Children's Hospital -
Research area/topic::
Misfolding of Cu/Zn superoxide dismutase by pathological FUS and TDP43: relevance to amyotrophic lateral sclerosis
-
Institution/s:
Amyotrophic Lateral Sclerosis Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
14 % |
![]() By Athena Diagnostics Inc (United States).
TIA1, MYOT, TTN, VCP, CAV3, LDB3, KLHL9, GNE, CRYAB, ANO5, DES, DNM2, DYSF, FLNC, MATR3, MYH7, NEB
Specificity
12 %
Genes
6 % |
![]() By Athena Diagnostics Inc (United States).
SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
83 %
Genes
39 % |
![]() By Athena Diagnostics Inc (United States).
SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
80 %
Genes
34 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)
View the complete list with 34 more genes
Specificity
6 %
Genes
9 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)
View the complete list with 124 more genes
Specificity
4 %
Genes
14 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1 , (...)
View the complete list with 1 more genes
Specificity
72 %
Genes
42 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...)
View the complete list with 59 more genes
Specificity
3 %
Genes
6 % |
You can get up to 615 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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