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Research projects

Pig models for Ataxia telangiectasia and Batten disease Faculty of Medicine and University Hospital Motol Department of Pediatrics

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - FR CHU de Strasbourg - Hôpital de Hautepierre Service de Neuropédiatrie

From leukocyte migration dysfunction to phenotypic drug discovery in Ataxia Telangiectasia Hôpital Necker-Enfants Malades Immune Cell Dynamics Lab

ADDRess: Translational research for patients with abnormal DNA Damage Response Deutsches Krebsforschungszentrum KITZ - Hopp-Kindertumorzentrum Heidelberg

ADDRess: Translational research for patients with abnormal DNA Damage Response Universitäts-Frauenklinik Heidelberg Frauenheilkunde und Geburtshilfe

ADDRess: Translational research for patients with abnormal DNA Damage Response Universität Würzburg - Biozentrum Institut für Humangenetik

Phase IV Study: Status of the growth hormone/ insulin-like growth factor-1 axis in relation to growth failure, body weight and neuroprotection in children with Ataxia Telangiectasia Universitätsklinikum Frankfurt Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

Neurofilament Light- Chain as Biomarker for Neurodegeneration in Ataxia Telangiectasia Universitätsklinikum Frankfurt Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

ADDRess: Translational research for patients with abnormal DNA Damage Response Medizinische Hochschule Hannover Klinik für Pädiatrische Hämatologie und Onkologie

ADDRess: Translational research for patients with abnormal DNA Damage Response Universitätsklinikum Düsseldorf Institut für Pathologie

TC NER : Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases (coordination) CECAD Research Center Exzellenzcluster CECAD in der Universität zu Köln

Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families A.O. S. Andrea Servizio di Genetica Medica

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - IT IFOM - Istituto FIRC di Oncologia Molecolare Firc Institute of Molecular Oncology (IFOM)

Hematopoietic Stem Cell Gene Therapy for treatment of Ataxia telangiectasia (A-T) Institute for Regenerative Medicine Department Gene and Cell Therapy

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

Development of a Gene Therapy with Neuroglobin aimed at treating Cerebellar Ataxias, independently of their genetic origin, by beneficiating of neuroglobin durable protective effect on mitochondrial function Université Pierre et Marie Curie - Paris 6 - UPMC INSERM, U968

Li-Fraumeni syndrome-cancer predisposition syndrome registry Deutsches Krebsforschungszentrum KITZ - Hopp-Kindertumorzentrum Heidelberg

CancerEvo: Investigation of evolution in sporadic and tumor disposition syndrome-associated tumors Universitätsklinikum Augsburg II. Medizinische Klinik

OnkoRiskNET: Cooperation network for the provision of local care for patients and families with a genetic tumour risk syndrome Medizinische Hochschule Hannover Institut für Humangenetik

Li-Fraumeni syndrome-cancer predisposition syndrome registry Medizinische Hochschule Hannover Klinik für Pädiatrische Hämatologie und Onkologie

Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease Trinity College Dublin Institute of Neuroscience

Investigating cell-specific pathology in Huntington's disease and spinocerebellar ataxia iPSC-derived brain assembloids before and after treatment with targeted antisense oligonucleotides LUMC - Leids Universitair Medisch Centrum

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias Instituto de Biologia Molecular e Celular Centro de Genética Preditiva e Preventiva

Clinical implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction. Instituto de Biologia Molecular e Celular Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias Instituto de Biologia Molecular e Celular Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias Hospital São Sebastião Serviço de Neurologia

Improving diagnostic yield for hereditary spastic paraplegias and cerebellar ataxias with long-read genome, transcriptome, and functional genomics IDIBELL - Instituto de Investigación Biomédica de Bellvitge Instituto de Investigación Biomédica de Bellvitge

Patholog-omics - essential tremor in the broader context of neurodegeneration Institution: Information not provided - US

RAGT-Neuro-1: Robot-assisted gait training in patients with neurological disorders: a comparative multiple case study - AT Institution: Information not provided - AT

GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression Hôpital Universitaire des Enfants Reine Fabiola - HUDERF Dermatologie

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

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

Analysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS Institut de génétique et de biologie moléculaire et cellulaire - IGBMC Département Médecine translationnelle et neurogénétique

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

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 investigación en 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

First repository of methylation data from the Spanish reference population and improvement of the epigenetic study in patients with undiagnosed rare diseases (Epi-ENoD) Hospital Universitario La Paz

Mechanistic models using Machine Learning for therapeutic targets discovery and drug repurposing in Rare Diseases ISCIII - Instituto de Salud Carlos III Centro de Investigación Biomédica en Red de Enfermedades Raras

The etiology of inherited neurological diseases Phoenix Children's Hospital Barrow Neurological Institute

Molecular studies of key molecules in immune signaling - Identification of novel players & rescue strategies in natural killer cell cytotoxicity AKH BT 25.3 Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

Muscle rehabilitation of cerebral palsy patients recieving botulinum toxin type-A (Botox) treatments University of Calgary Faculty of Kinesiology

Genetics of primary immunodeficiency diseases HUS - Helsinki University Hospital

Nutrient transporters: a new tool for characterization of hematopoietic progenitors with optimal transplantation potential Institution: Information not provided - FR

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

German Centre for Infection Research: Infections of the immunocompromised Host - Investigation of genetic susceptibility and identification of diagnostic biomarkers of infection control Medizinische Hochschule Hannover Abteilung für Virologie

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

Functional consequences of genetic variations in primary immunodeficiencies and immune dysregulation (FUNPID) Oslo University Hospital, Rikshospitalet Nasjonal behandlingstjeneste for screening av nyfødte og avansert laboratoriediagnostikk ved medfødte stoffskiftesykdommer

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

Integrating genome and transcriptome profiling for the identification of novel genetic basis of primary immunodeficiencies Vall d'Hebron Institut de Recerca VHIR Vall d'Hebron Institut de Recerca

Characterization of the immunological alterations, specifically in Treg cells, involved in immune dysregulation in pediatric patients with inborn errors of immunity, towards targeted therapies Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu

Characterization of the immunological alterations, specifically in Treg cells, involved in immune dysregulation in pediatric patients with inborn errors of immunity, towards targeted therapies Institution: Information not provided - ES

Whole genome sequencing and variant prioritization by HPO terms in patients with primary immunodeficiencies with unknown molecular diagnosis Instituto de Investigación Hospital 12 de Octubre Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

Genetic basis of immunodeficiency diseases Karolinska Institutet Department of laboratory medicine (LABMED)

The role of ZNF74 in the generation and maintenance of immunological memory Universitätsspital Basel Departement Biomedizin

Pathophysiology of Inborn Immunodeficiencies Institute for Regenerative Medicine Department Gene and Cell Therapy

Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing Institute for Regenerative Medicine Department Gene and Cell Therapy

Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies Universitäts - Kinderspital Zürich - Eleonorenstiftung Immunologie

NIHR BioResource - Rare Disease: PID - Primary Immune Disorders Addenbrooke's Hospital Department of Medicine - Renal services

Development, validation and implementation of new fluid biomarker tests for neurodegenerative dementias. Role in diagnosis, prognosis and disease monitoring ISCIII - Instituto de Salud Carlos III Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas

FINCA mouse as a tool to study mechanisms behind severe fibrosis and neurodegeneration University of Oulu Biocenter Oulu

The emergent pathogenic role for the intermediate CAG repeats in the HTT gene: from the neuropathological evidences to the molecular findings Fundación para la Investigación Biosanitaria del Principado de Asturias FINBA: Fundación para la Investigación Biosanitaria del Principado de Asturias

Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders Instituto de Química Avanzada de Cataluña Unidad de Investigación en Moléculas Bioactivas

Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders IDIBELL - Instituto de Investigación Biomédica de Bellvitge Laboratorio de Enfermedades Neurometabólicas

Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders Instituto de Investigación Sanitaria Biodonostia Área de Neurociencias

Multicentric Research projects

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases CECAD Research Center Exzellenzcluster CECAD in der Universität zu Köln

SPATAX: European network for hereditary spinocerebellar degenerative disorders Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

Euro-SCAR: Nosology and molecular diagnosis of the degenerative recessive ataxias IURC - Institut Universitaire de Recherche Clinique Laboratoire de génétique moléculaire

EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge CCI am Universitätsklinikum Freiburg Centrum für Chronische Immundefizienz

Pig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol

Department of Pediatrics

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - FR
CHU de Strasbourg - Hôpital de Hautepierre

Service de Neuropédiatrie

From leukocyte migration dysfunction to phenotypic drug discovery in Ataxia Telangiectasia
Hôpital Necker-Enfants Malades

Immune Cell Dynamics Lab

ADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum

KITZ - Hopp-Kindertumorzentrum Heidelberg

ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg

Frauenheilkunde und Geburtshilfe

ADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum

Institut für Humangenetik

Phase IV Study: Status of the growth hormone/ insulin-like growth factor-1 axis in relation to growth failure, body weight and neuroprotection in children with Ataxia Telangiectasia
Universitätsklinikum Frankfurt

Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

Neurofilament Light- Chain as Biomarker for Neurodegeneration in Ataxia Telangiectasia
Universitätsklinikum Frankfurt

Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

ADDRess: Translational research for patients with abnormal DNA Damage Response
Medizinische Hochschule Hannover

Klinik für Pädiatrische Hämatologie und Onkologie

ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf

Institut für Pathologie

TC NER : Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases (coordination)
CECAD Research Center

Exzellenzcluster CECAD in der Universität zu Köln

Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families
A.O. S. Andrea

Servizio di Genetica Medica

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - IT
IFOM - Istituto FIRC di Oncologia Molecolare

Firc Institute of Molecular Oncology (IFOM)

Hematopoietic Stem Cell Gene Therapy for treatment of Ataxia telangiectasia (A-T)
Institute for Regenerative Medicine

Department Gene and Cell Therapy

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

Service de génétique médicale

Development of a Gene Therapy with Neuroglobin aimed at treating Cerebellar Ataxias, independently of their genetic origin, by beneficiating of neuroglobin durable protective effect on mitochondrial function
Université Pierre et Marie Curie - Paris 6 - UPMC

INSERM, U968

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum

KITZ - Hopp-Kindertumorzentrum Heidelberg

CancerEvo: Investigation of evolution in sporadic and tumor disposition syndrome-associated tumors
Universitätsklinikum Augsburg

II. Medizinische Klinik

OnkoRiskNET: Cooperation network for the provision of local care for patients and families with a genetic tumour risk syndrome
Medizinische Hochschule Hannover

Institut für Humangenetik

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover

Klinik für Pädiatrische Hämatologie und Onkologie

Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin

Institute of Neuroscience

Investigating cell-specific pathology in Huntington's disease and spinocerebellar ataxia iPSC-derived brain assembloids before and after treatment with targeted antisense oligonucleotides
LUMC - Leids Universitair Medisch Centrum

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular

Centro de Genética Preditiva e Preventiva

Clinical implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction.
Instituto de Biologia Molecular e Celular

Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular

Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Hospital São Sebastião

Serviço de Neurologia

Improving diagnostic yield for hereditary spastic paraplegias and cerebellar ataxias with long-read genome, transcriptome, and functional genomics
IDIBELL - Instituto de Investigación Biomédica de Bellvitge

Instituto de Investigación Biomédica de Bellvitge

Patholog-omics - essential tremor in the broader context of neurodegeneration
Institution: Information not provided - US

RAGT-Neuro-1: Robot-assisted gait training in patients with neurological disorders: a comparative multiple case study - AT
Institution: Information not provided - AT

GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF

Dermatologie

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

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

Analysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC

Département Médecine translationnelle et neurogénétique

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

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 investigación en 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

First repository of methylation data from the Spanish reference population and improvement of the epigenetic study in patients with undiagnosed rare diseases (Epi-ENoD)
Hospital Universitario La Paz

Mechanistic models using Machine Learning for therapeutic targets discovery and drug repurposing in Rare Diseases
ISCIII - Instituto de Salud Carlos III

Centro de Investigación Biomédica en Red de Enfermedades Raras

The etiology of inherited neurological diseases
Phoenix Children's Hospital

Barrow Neurological Institute

Molecular studies of key molecules in immune signaling - Identification of novel players & rescue strategies in natural killer cell cytotoxicity
AKH BT 25.3

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

Muscle rehabilitation of cerebral palsy patients recieving botulinum toxin type-A (Botox) treatments
University of Calgary

Faculty of Kinesiology

Genetics of primary immunodeficiency diseases
HUS - Helsinki University Hospital

Nutrient transporters: a new tool for characterization of hematopoietic progenitors with optimal transplantation potential
Institution: Information not provided - FR

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

German Centre for Infection Research: Infections of the immunocompromised Host - Investigation of genetic susceptibility and identification of diagnostic biomarkers of infection control
Medizinische Hochschule Hannover

Abteilung für Virologie

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

Centro Nazionale Malattie Rare

Functional consequences of genetic variations in primary immunodeficiencies and immune dysregulation (FUNPID)
Oslo University Hospital, Rikshospitalet

Nasjonal behandlingstjeneste for screening av nyfødte og avansert laboratoriediagnostikk ved medfødte stoffskiftesykdommer

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

Integrating genome and transcriptome profiling for the identification of novel genetic basis of primary immunodeficiencies
Vall d'Hebron Institut de Recerca VHIR

Vall d'Hebron Institut de Recerca

Characterization of the immunological alterations, specifically in Treg cells, involved in immune dysregulation in pediatric patients with inborn errors of immunity, towards targeted therapies
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu

Characterization of the immunological alterations, specifically in Treg cells, involved in immune dysregulation in pediatric patients with inborn errors of immunity, towards targeted therapies
Institution: Information not provided - ES

Whole genome sequencing and variant prioritization by HPO terms in patients with primary immunodeficiencies with unknown molecular diagnosis
Instituto de Investigación Hospital 12 de Octubre

Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

Genetic basis of immunodeficiency diseases
Karolinska Institutet

Department of laboratory medicine (LABMED)

The role of ZNF74 in the generation and maintenance of immunological memory
Universitätsspital Basel

Departement Biomedizin

Pathophysiology of Inborn Immunodeficiencies
Institute for Regenerative Medicine

Department Gene and Cell Therapy

Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing
Institute for Regenerative Medicine

Department Gene and Cell Therapy

Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Universitäts - Kinderspital Zürich - Eleonorenstiftung

Immunologie

NIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital

Department of Medicine - Renal services

Development, validation and implementation of new fluid biomarker tests for neurodegenerative dementias. Role in diagnosis, prognosis and disease monitoring
ISCIII - Instituto de Salud Carlos III

Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas

FINCA mouse as a tool to study mechanisms behind severe fibrosis and neurodegeneration
University of Oulu

Biocenter Oulu

The emergent pathogenic role for the intermediate CAG repeats in the HTT gene: from the neuropathological evidences to the molecular findings
Fundación para la Investigación Biosanitaria del Principado de Asturias

FINBA: Fundación para la Investigación Biosanitaria del Principado de Asturias

Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Química Avanzada de Cataluña

Unidad de Investigación en Moléculas Bioactivas

Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
IDIBELL - Instituto de Investigación Biomédica de Bellvitge

Laboratorio de Enfermedades Neurometabólicas

Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Investigación Sanitaria Biodonostia

Área de Neurociencias

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases

CECAD Research Center

Exzellenzcluster CECAD in der Universität zu Köln

SPATAX: European network for hereditary spinocerebellar degenerative disorders

Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière

Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

Euro-SCAR: Nosology and molecular diagnosis of the degenerative recessive ataxias

IURC - Institut Universitaire de Recherche Clinique

Laboratoire de génétique moléculaire

EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge

CCI am Universitätsklinikum Freiburg

Centrum für Chronische Immundefizienz

PREPARE : Preparing for therapies in autosomal recessive ataxias

Hertie-Institut für klinische Hirnforschung (HIH)

Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

CAMINEMS: Integrated Micro-Nano-Opto Fluidic systems for high-content diagnosis and studies of rare cancer cells

Institut Curie

Macromolécules et Microsystèmes en Biologie et en Medecine

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

GENESKIN: European network on rare genetic skin diseases

Istituto Dermopatico dell'Immacolata - IRCCS

Laboratorio di Biologia Molecolare e Cellulare

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.C. di Neuropsichiatria Infantile