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Forschungsprojekt(e)

Virtual Cybrids: In silico approach to simulate the influence of haplogroups on the mitochondrial energy metabolism Institution: Information not provided - FR

Mitochondrial gene expression in normal, mutant and 3-parent preimplantation embryos Institution: Information not provided - FR

Molecular mechanisms of mtDNA maintenance in human health and disease Laboratoire de Physique de Clermont Health, Environment and Energy

The bacterial protein CNF1 as a novel strategy to counteract mitochondrial encephalomyopathies CHU de Bordeaux-GH Pellegrin Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

Influence of mtDNA background (haplogroups) on mitochondrial pathologies. Faculté de médecine de Toulouse Equipe de "Médecine évolutive"

Addressing Complex I deficiencies through drug screening CHU d'Angers Plateau de Biologie et Médecine Moléculaire

MICA: Randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in patients with Mitochondrial Myopathy (AIMM) Newcastle University Institute for Ageing (NUIA), Newcastle Biomedicine Wellcome Trust Centre for Mitochondrial Research (Institute of Neuroscience)

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

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes CIUSSS de l'Estrie - CHUS Fleurimont Service de génétique médicale

Pathophysiology and therapeutic strategies in mitochondrial diseases using patient-specific induced neurons generated by direct reprograming Centro Andaluz de Biología del Desarrollo (CABD) Grupo de Biología celular y Biotecnología

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

Functional validation studies of genetic variants in mitochondrial and nuclear genome in patients with mitochondrial diseases Vall d'Hebron Institut de Recerca VHIR Grupo de investigación en patología neuromuscular y mitocondrial

RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases Hospital Universitario Fundación Jiménez Díaz Servicio de Genética Clínica

Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders Faculté de Médecine Lyon Est Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

Help configurations and employment situations for caregivers. The case of children with rare diseases with intellectual disability. A pilot study Université de Bourgogne - Bâtiment B3 Laboratoire d'Economie de Dijon (LEDi)

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

Rare variant burden contribution to psychiatric disorders in a child-adolescent population with borderline/mild intellectual disability Corporación Sanitaria Parc Taulí Laboratorio de Genética de la UDIAT-CD

New tools for the diagnosis and treatment of mitochondrial OXPHOS disorders Instituto de Investigación Hospital 12 de Octubre Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

A powerful web-based discovery platform for rare disease genetics Institution: Information not provided - US

mitoNET: Projekt mitoVALID - Entwicklung einer Plattform zur funktionalen Validierung in der Diagnostik Institut für Humangenetik der TU München Institut für Humangenetik

mitoNET: Projekt mitoSAMPLE - Anlage einer biologischen Probensammlung zur Nutzung durch die Netzwerkpartner Institut für Humangenetik der TU München Institut für Humangenetik

GENOMIT- Mitochondriale Krankheiten: von einem globalen Register zur medizinischen Genomik, hin zu klinischen Studien - Patientenregister LMU Klinikum der Universität München - Campus Großhadern Neurologische Klinik und Poliklinik

Klinische und genetische Präsentation von Mitochondriopathien im Kindes- und Jugendalter Universitätsmedizin Göttingen Klinik für Kinder- und Jugendmedizin

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

Molecular Thermobiology of Mitochondria Tampere University Faculty of Medicine and Health Technology

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

Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials Laboratoire de Génétique des maladies mitochondriales UMR_S1163 : Génétique des maladies mitochondriales

Ubinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system CHU de Bordeaux-GH Pellegrin Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

Identifying candidate drugs in mitochondrial cardiomyopathies: From Mouse to Human Faculté de médecine de Nice Sophia-Antipolis IRCAN - Institut de Recherche sur le Cancer et le Vieillissement (INSERM U 1081 - CNRS UMR7284)

Identification and characterization of nuclear genes responsible for human mitochondrial disorders Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca U.O. di Neurogenetica Molecolare

GENOMIT : Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials - IT Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca U.O. di Neurogenetica Molecolare

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

Enhancing Opa1-dependent cristae structure to combat mitochondrial diseases Venetian Institute of Molecular Medicine Fondazione per la ricerca Biomedica avanzata ONLUS

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

GENOMIT : Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials - AT Universitätsklinikum der Paracelsus Medizinischen Privatuniversität Universitätsklinik für Kinder- und Jugendheilkunde

IDOLS-G: Improved diagnostic output in large sarcomeric genes - ES Vall d'Hebron Institut de Recerca VHIR Grupo de investigación en neurología pediátrica

Investigation of mitochondrial dysfunction with genomic and biochemical analysis Institute of Genomic Medicine and Rare Disorders, Semmelweis University Genetics Laboratory

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

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

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

Impact of the type of interface in neuromuscular patients treated with nocturnal Noninvasive Ventilation: a randomized crossover trial 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

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

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 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

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

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

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

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

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

Cough augmentation with mechanical insufflation, exsufflation in children with neuromuscular disease and weak cough. A cross sectional study Oslo University Hospital, Ullevaal Oslo University Hospital, Ullevål

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

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

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

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

Multizentrische Forschungsprojekte

InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network MetabERN coordinating Center

Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases Azienda Ospedaliera di Padova Clinica Pediatrica

CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics A.O.U. Policlinico "G. Martino" U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche

GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated) Radboudumc - Radboud universitair medisch centrum Afdeling Genetica

Virtual Cybrids: In silico approach to simulate the influence of haplogroups on the mitochondrial energy metabolism
Institution: Information not provided - FR

Mitochondrial gene expression in normal, mutant and 3-parent preimplantation embryos
Institution: Information not provided - FR

Molecular mechanisms of mtDNA maintenance in human health and disease
Laboratoire de Physique de Clermont

Health, Environment and Energy

The bacterial protein CNF1 as a novel strategy to counteract mitochondrial encephalomyopathies
CHU de Bordeaux-GH Pellegrin

Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

Influence of mtDNA background (haplogroups) on mitochondrial pathologies.
Faculté de médecine de Toulouse

Equipe de "Médecine évolutive"

Addressing Complex I deficiencies through drug screening
CHU d'Angers

Plateau de Biologie et Médecine Moléculaire

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

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont

Service de génétique médicale

Pathophysiology and therapeutic strategies in mitochondrial diseases using patient-specific induced neurons generated by direct reprograming
Centro Andaluz de Biología del Desarrollo (CABD)

Grupo de Biología celular y Biotecnología

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

Functional validation studies of genetic variants in mitochondrial and nuclear genome in patients with mitochondrial diseases
Vall d'Hebron Institut de Recerca VHIR

Grupo de investigación en patología neuromuscular y mitocondrial

RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz

Servicio de Genética Clínica

Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders
Faculté de Médecine Lyon Est

Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

Help configurations and employment situations for caregivers. The case of children with rare diseases with intellectual disability. A pilot study
Université de Bourgogne - Bâtiment B3

Laboratoire d'Economie de Dijon (LEDi)

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

Rare variant burden contribution to psychiatric disorders in a child-adolescent population with borderline/mild intellectual disability
Corporación Sanitaria Parc Taulí

Laboratorio de Genética de la UDIAT-CD

New tools for the diagnosis and treatment of mitochondrial OXPHOS disorders
Instituto de Investigación Hospital 12 de Octubre

Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

mitoNET: Projekt mitoVALID - Entwicklung einer Plattform zur funktionalen Validierung in der Diagnostik
Institut für Humangenetik der TU München

Institut für Humangenetik

mitoNET: Projekt mitoSAMPLE - Anlage einer biologischen Probensammlung zur Nutzung durch die Netzwerkpartner
Institut für Humangenetik der TU München

Institut für Humangenetik

GENOMIT- Mitochondriale Krankheiten: von einem globalen Register zur medizinischen Genomik, hin zu klinischen Studien - Patientenregister
LMU Klinikum der Universität München - Campus Großhadern

Neurologische Klinik und Poliklinik

Klinische und genetische Präsentation von Mitochondriopathien im Kindes- und Jugendalter
Universitätsmedizin Göttingen

Klinik für Kinder- und Jugendmedizin

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

Molecular Thermobiology of Mitochondria
Tampere University

Faculty of Medicine and Health Technology

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

Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials
Laboratoire de Génétique des maladies mitochondriales

UMR_S1163 : Génétique des maladies mitochondriales

Ubinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin

Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

Identifying candidate drugs in mitochondrial cardiomyopathies: From Mouse to Human
Faculté de médecine de Nice Sophia-Antipolis

IRCAN - Institut de Recherche sur le Cancer et le Vieillissement (INSERM U 1081 - CNRS UMR7284)

Identification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca

U.O. di Neurogenetica Molecolare

GENOMIT : Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials - IT
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca

U.O. di Neurogenetica Molecolare

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

Dipartimento di Biologia

Enhancing Opa1-dependent cristae structure to combat mitochondrial diseases
Venetian Institute of Molecular Medicine

Fondazione per la ricerca Biomedica avanzata ONLUS

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

Afdeling Fysiologie

GENOMIT : Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials - AT
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität

Universitätsklinik für Kinder- und Jugendheilkunde

IDOLS-G: Improved diagnostic output in large sarcomeric genes - ES
Vall d'Hebron Institut de Recerca VHIR

Grupo de investigación en neurología pediátrica

Investigation of mitochondrial dysfunction with genomic and biochemical analysis
Institute of Genomic Medicine and Rare Disorders, Semmelweis University

Genetics Laboratory

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

Department of Biophysics and Radiation Biology

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

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

Impact of the type of interface in neuromuscular patients treated with nocturnal Noninvasive Ventilation: a randomized crossover trial
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

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

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
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

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

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

Centro Nazionale Malattie Rare

Cellular network driving neuromuscular junction stability
Sapienza Università di Roma

Università degli Studi di Roma "La Sapienza"

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

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

Faculty of Medicine -

Cough augmentation with mechanical insufflation, exsufflation in children with neuromuscular disease and weak cough. A cross sectional study
Oslo University Hospital, Ullevaal

Oslo University Hospital, Ullevål

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna

Department of Molecular Medicine and Surgery (MMK)

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

CMM - Centre des Maladies Moléculaires

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

Department of Genetics

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

InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network

MetabERN coordinating Center

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

Azienda Ospedaliera di Padova

Clinica Pediatrica

CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics

A.O.U. Policlinico "G. Martino"

U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche

GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)

Radboudumc - Radboud universitair medisch centrum

Afdeling Genetica

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

GENOMIT: Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials

Institut für Humangenetik der TU München

Institut für Humangenetik

IDOLS-G: Improved diagnostic output in large sarcomeric genes

TAYS - Tampere University Hospital

Neuromuscular Center

MITOCIRCLE: mitochondrial diseases: from bedside to genome to bedside (FINISHED)

AZM - Academisch Ziekenhuis Maastricht

Laboratorium Clinical Genomics

EUROMUSCLENET: European information network on muscle diseases -terminated -

Charité / Max-Delbrück-Centrum für Molekulare Medizin

Muskelforschung mit Hochschulambulanz für Muskelkrankheiten

MYORES: European Muscle Development Network (FINISHED)

Faculté de médecine de Clermont-Ferrand

Laboratoire de Génétique, Reproduction et Développement