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Research projects

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - AT Institution: Information not provided - AT

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - CZ Institution: Information not provided - CZ

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - DK Institution: Information not provided - DK

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - FR Institution: Information not provided - FR

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - HU Institution: Information not provided - HU

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - IT ASST Spedali Civili di Brescia U.O di Neurologia

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - PL Institution: Information not provided - PL

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - GB Institution: Information not provided - GB

Multidisciplinary approach for the diagnosis and characterization of rare muscular diseases IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism Children's Hospital of Eastern Ontario Newborn Screening Ontario

Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism University of Ottawa Department of Epidemiology and Community Medicine

IDOLS-G: Improved diagnostic output in large sarcomeric genes - EE Department of Clinical Genetics - University of Tartu Department of Clinical Genetics

IDOLS-G: Improved diagnostic output in large sarcomeric genes -FI Folkhälsan Folkhälsan Research Center

IDOLS-G: Improved diagnostic output in large sarcomeric genes - FR Institut de génétique et de biologie moléculaire et cellulaire - IGBMC Département Médecine translationnelle et neurogénétique

IDOLS-G: Improved diagnostic output in large sarcomeric genes - HU Semmelweis University Department of Biophysics and Radiation Biology

The Italian Expanded newborn screening program ISS - Istituto Superiore di Sanità Centro Nazionale Malattie Rare

IDOLS-G: Improved diagnostic output in large sarcomeric genes - IT Università degli Studi di Firenze Dipartimento di Biologia

IDOLS-G: Improved diagnostic output in large sarcomeric genes - NL Amsterdam UMC, locatie VUmc Afdeling Fysiologie

Inborn errors of endocrinology and metabolism Karolinska Institutet Department of Molecular Medicine and Surgery (MMK)

Enterobacteria Strain-level Characterization in Children With Inborn Errors of Metabolism (IEM) Universitäts - Kinderspital Zürich - Eleonorenstiftung Abteilung für Stoffwechselkrankheiten

Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont CMM - Centre des Maladies Moléculaires

MetBioNet - National Metabolic Biochemistry Network. Southmead Hospital North Bristol NHS Trust

MetBioNet - National Metabolic Biochemistry Network. The Sheffield Children's Hospital Department of Clinical Chemistry

Basic and clinical studies in immune function and metabolism Institution: Information not provided - US

Metabolic engineering in humans: altered gut microbes as a therapeutic platform Institution: Information not provided - US

Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations University of Victoria Community Genetics Research Program/Island Medical Program

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer Hospital for Sick Children, Research Institute

Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling Fundación Progreso y Salud Área de bioinformática clínica

Development of a repository of genomic analysis workflows Fundación Progreso y Salud Área de bioinformática clínica

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Centro de Regulación Genómica Archivo europeo de genomas y fenomas del CRG

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Clínic de Barcelona Servicio de Inmunologia

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Universitari Vall d'Hebron Laboratorio de Genética

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital de la Santa Creu i Sant Pau Servicio de Genética

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu Grupo de Neurogenética y Medicina Molecular

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Sant Joan de Déu Barcelona Servicio de Laboratorio

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Universitari de Bellvitge Unidad de Genética Molecular

Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine Instituto de Investigación Hospital 12 de Octubre Grupo de Enfermedades raras, mitocondriales y neuromusculares

A preclinical study to treat neuromuscular diseases caused by mutations in the small heat shock protein HSPB8 University of Antwerp - UA, Campus Drie Eiken Peripheral Neuropathy Research Group

Inhibition of HDAC6 as Therapeutic Strategy in Neuromuscular Diseases University of Ottawa Faculty of Medicine -

Early identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders CHU Grenoble Alpes - Site Nord - Hôpital Couple Enfant Laboratoire EFCR/Pneumologie

Interplay between cell metabolism and alternative splicing ENS - Ecole normale supérieure de Lyon Laboratoire de biologie et modélisation de la cellule - UMR5239

Amino acid metabolism and alternative splicing ENS - Ecole normale supérieure de Lyon Laboratoire de biologie et modélisation de la cellule - UMR5239

Development and validation study of a Motor Function Measure digitalized playful completion modules Hospices Civils de Lyon

Impact of pre-phonation inspiratory volume on speech quality of neuromuscular patients requiring non invasive ventilation Institution: Information not provided - FR

Impact du type d'interface chez les patients neuromusculaires traités par ventilation non invasive nocturne: un essai croisé randomisé Institution: Information not provided - FR

Impact of blowpipe training on cough efficiency in neuromuscular patients : a prospective evaluation. Institution: Information not provided - FR

L'annonce diagnostique d'une maladie neuromusculaire à l'âge adulte. Retentissements psychologiques des processus communicationnels entre médecin et patient Institution: Information not provided - FR

TRANSLAMUSCLE: An integrated translational program from basic research to biotherapies in stem cells and molecular medicine of the neuromuscular system Faculté de Médecine de Créteil Equipe 'Biologie du système neuromusculaire'

An integrated translational program for neuromuscular disorders Faculté de Médecine de Créteil Equipe 'Biologie du système neuromusculaire'

An integrated translational program for neuromuscular disorders Hôpitaux Universitaires Henri Mondor Centre expert de maladie neuro-musculaire

Patient-ventilator asynchrony in neuromuscular disease: real life evaluation using devices softwares CHU Paris IdF Ouest - Hôpital Raymond Poincaré Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

Early identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders CHU Paris IdF Ouest - Hôpital Raymond Poincaré Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

Nuclear genetic suppressors in yeast models of mtDNA mutations associated to neuromuscular diseases Institut National de la Santé et de la Recherche Médicale

sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - FR Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière Equipe "Traitement de la sclérose latérale amyotrophique : de la génétique au poisson zèbre"

ExoMS: a 3D printed exoskeleton with springs to enhance upper limb mobility of children with neuromuscular disease CHU de Nantes CHU Nantes

New modulators of the skeletal and cardiac ryanodine receptors CHU de Nantes CHU Nantes

Modelisation and Therapeutic Approaches for Rare Diseases Université de médecine Aix-Marseille Université Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - FR Université de médecine Aix-Marseille Université Centre de Résonance Magnétique Biologique et Médicale

A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - IL University of Tel-Aviv Dep. of Bio-Medical Engineering

Cellular network driving neuromuscular junction stability Sapienza Università di Roma Università degli Studi di Roma "La Sapienza"

Unraveling HSPB3 physiological functions to understand its implication in neuromuscular diseases Sapienza Università di Roma - Dip. di Biologia e Biotecnologie Charles Darwin Dipartimento di Biologia e Biotecnologie - Charles Darwin

Understanding histopathological alterations in neuromuscular disorders by spatial transcriptomics LUMC - Leids Universitair Medisch Centrum Afdeling Humane Genetica

Mekanisk hostestøtte for barn med nevromuskulær sykdom og svak hoste Oslo University Hospital, Ullevaal Oslo University Hospital, Ullevål

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform Centro de Regulación Genómica Centro Nacional de Análisis Genómico

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform ISGlobal - Instituto de Salud Global de Barcelona Programa de investigación en Enfermedades no transmisibles y medio ambiente

Implementation of an artificial intelligence module on the web-based digital platform MyoShare for guiding the diagnosis of muscle diseases. University of Newcastle John Walton Muscular Dystrophy Research Centre

sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - US Stanford University School of Medicine Department of Genetics

Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity Institut National de la Santé et de la Recherche Médicale

Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins ISS - Istituto Superiore di Sanità Centro Nazionale Malattie Rare

Multicentric Research projects

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) Oregon Health & Science University Molecular and Medical Genetics

IDOLS-G: Improved diagnostic output in large sarcomeric genes Tampere University Hospital, the Wellbeing Services County of Pirkanmaa Neuromuscular Center

Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases Institut für Medizinische Genetik und angewandte Genomik Tübingen Institut für Medizinische Genetik und angewandte Genomik

TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT Oxford University Begbroke Science Park Zyoxel Limited

MYORES: European Muscle Development Network (FINISHED) Faculté de médecine de Clermont-Ferrand Laboratoire de Génétique, Reproduction et Développement

EUROMUSCLENET: Europäisches Informations-Netzwerk über muskuläre Erkrankungen Charité / Max-Delbrück-Centrum für Molekulare Medizin Muskelforschung mit Hochschulambulanz für Muskelkrankheiten

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - AT
Institution: Information not provided - AT

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - CZ
Institution: Information not provided - CZ

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - DK
Institution: Information not provided - DK

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - FR
Institution: Information not provided - FR

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - HU
Institution: Information not provided - HU

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - IT
ASST Spedali Civili di Brescia

U.O di Neurologia

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - PL
Institution: Information not provided - PL

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - GB
Institution: Information not provided - GB

Multidisciplinary approach for the diagnosis and characterization of rare muscular diseases
IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario

Newborn Screening Ontario

Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa

Department of Epidemiology and Community Medicine

IDOLS-G: Improved diagnostic output in large sarcomeric genes - EE
Department of Clinical Genetics - University of Tartu

Department of Clinical Genetics

IDOLS-G: Improved diagnostic output in large sarcomeric genes -FI
Folkhälsan

Folkhälsan Research Center

IDOLS-G: Improved diagnostic output in large sarcomeric genes - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC

Département Médecine translationnelle et neurogénétique

IDOLS-G: Improved diagnostic output in large sarcomeric genes - HU
Semmelweis University

Department of Biophysics and Radiation Biology

The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

IDOLS-G: Improved diagnostic output in large sarcomeric genes - IT
Università degli Studi di Firenze

Dipartimento di Biologia

IDOLS-G: Improved diagnostic output in large sarcomeric genes - NL
Amsterdam UMC, locatie VUmc

Afdeling Fysiologie

Inborn errors of endocrinology and metabolism
Karolinska Institutet

Department of Molecular Medicine and Surgery (MMK)

Enterobacteria Strain-level Characterization in Children With Inborn Errors of Metabolism (IEM)
Universitäts - Kinderspital Zürich - Eleonorenstiftung

Abteilung für Stoffwechselkrankheiten

Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont

CMM - Centre des Maladies Moléculaires

MetBioNet - National Metabolic Biochemistry Network.
Southmead Hospital

North Bristol NHS Trust

MetBioNet - National Metabolic Biochemistry Network.
The Sheffield Children's Hospital

Department of Clinical Chemistry

Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US

Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US

Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria

Community Genetics Research Program/Island Medical Program

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud

Área de bioinformática clínica

Development of a repository of genomic analysis workflows
Fundación Progreso y Salud

Área de bioinformática clínica

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica

Archivo europeo de genomas y fenomas del CRG

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona

Servicio de Inmunologia

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron

Laboratorio de Genética

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau

Servicio de Genética

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu

Grupo de Neurogenética y Medicina Molecular

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona

Servicio de Laboratorio

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge

Unidad de Genética Molecular

Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre

Grupo de Enfermedades raras, mitocondriales y neuromusculares

A preclinical study to treat neuromuscular diseases caused by mutations in the small heat shock protein HSPB8
University of Antwerp - UA, Campus Drie Eiken

Peripheral Neuropathy Research Group

Inhibition of HDAC6 as Therapeutic Strategy in Neuromuscular Diseases
University of Ottawa

Faculty of Medicine -

Early identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders
CHU Grenoble Alpes - Site Nord - Hôpital Couple Enfant

Laboratoire EFCR/Pneumologie

Interplay between cell metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon

Laboratoire de biologie et modélisation de la cellule - UMR5239

Amino acid metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon

Laboratoire de biologie et modélisation de la cellule - UMR5239

Development and validation study of a Motor Function Measure digitalized playful completion modules
Hospices Civils de Lyon

Impact of pre-phonation inspiratory volume on speech quality of neuromuscular patients requiring non invasive ventilation
Institution: Information not provided - FR

Impact du type d'interface chez les patients neuromusculaires traités par ventilation non invasive nocturne: un essai croisé randomisé
Institution: Information not provided - FR

Impact of blowpipe training on cough efficiency in neuromuscular patients : a prospective evaluation.
Institution: Information not provided - FR

L'annonce diagnostique d'une maladie neuromusculaire à l'âge adulte. Retentissements psychologiques des processus communicationnels entre médecin et patient
Institution: Information not provided - FR

TRANSLAMUSCLE: An integrated translational program from basic research to biotherapies in stem cells and molecular medicine of the neuromuscular system
Faculté de Médecine de Créteil

Equipe 'Biologie du système neuromusculaire'

An integrated translational program for neuromuscular disorders
Faculté de Médecine de Créteil

Equipe 'Biologie du système neuromusculaire'

An integrated translational program for neuromuscular disorders
Hôpitaux Universitaires Henri Mondor

Centre expert de maladie neuro-musculaire

Patient-ventilator asynchrony in neuromuscular disease: real life evaluation using devices softwares
CHU Paris IdF Ouest - Hôpital Raymond Poincaré

Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

Early identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders
CHU Paris IdF Ouest - Hôpital Raymond Poincaré

Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

Nuclear genetic suppressors in yeast models of mtDNA mutations associated to neuromuscular diseases
Institut National de la Santé et de la Recherche Médicale

sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - FR
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière

Equipe "Traitement de la sclérose latérale amyotrophique : de la génétique au poisson zèbre"

ExoMS: a 3D printed exoskeleton with springs to enhance upper limb mobility of children with neuromuscular disease
CHU de Nantes

CHU Nantes

New modulators of the skeletal and cardiac ryanodine receptors
CHU de Nantes

CHU Nantes

Modelisation and Therapeutic Approaches for Rare Diseases
Université de médecine Aix-Marseille Université

Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - FR
Université de médecine Aix-Marseille Université

Centre de Résonance Magnétique Biologique et Médicale

A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - IL
University of Tel-Aviv

Dep. of Bio-Medical Engineering

Cellular network driving neuromuscular junction stability
Sapienza Università di Roma

Università degli Studi di Roma "La Sapienza"

Unraveling HSPB3 physiological functions to understand its implication in neuromuscular diseases
Sapienza Università di Roma - Dip. di Biologia e Biotecnologie Charles Darwin

Dipartimento di Biologia e Biotecnologie - Charles Darwin

Understanding histopathological alterations in neuromuscular disorders by spatial transcriptomics
LUMC - Leids Universitair Medisch Centrum

Afdeling Humane Genetica

Mekanisk hostestøtte for barn med nevromuskulær sykdom og svak hoste
Oslo University Hospital, Ullevaal

Oslo University Hospital, Ullevål

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
Centro de Regulación Genómica

Centro Nacional de Análisis Genómico

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona

Programa de investigación en Enfermedades no transmisibles y medio ambiente

Implementation of an artificial intelligence module on the web-based digital platform MyoShare for guiding the diagnosis of muscle diseases.
University of Newcastle

John Walton Muscular Dystrophy Research Centre

sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - US
Stanford University School of Medicine

Department of Genetics

Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale

Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD)

Oregon Health & Science University

Molecular and Medical Genetics

IDOLS-G: Improved diagnostic output in large sarcomeric genes

Tampere University Hospital, the Wellbeing Services County of Pirkanmaa

Neuromuscular Center

Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

Institut für Medizinische Genetik und angewandte Genomik Tübingen

Institut für Medizinische Genetik und angewandte Genomik

TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT

Oxford University Begbroke Science Park

Zyoxel Limited

MYORES: European Muscle Development Network (FINISHED)

Faculté de médecine de Clermont-Ferrand

Laboratoire de Génétique, Reproduction et Développement

EUROMUSCLENET: Europäisches Informations-Netzwerk über muskuläre Erkrankungen

Charité / Max-Delbrück-Centrum für Molekulare Medizin

Muskelforschung mit Hochschulambulanz für Muskelkrankheiten

A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders

University of Tel-Aviv

Dep. of Bio-Medical Engineering

Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases

Azienda Ospedaliera di Padova

Clinica Pediatrica

sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease

Stanford University School of Medicine

Department of Genetics