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Financiado por um membro do IRDiRC =

Projetos de investigação

ALEMANHA

Berlin
BERLIN

Identification and characterization of pathogenic mutations in GPI-anchor deficiencies
Charité - Universitätsmedizin Berlin (CVK)
Institut für Medizinische Genetik und Humangenetik

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 3)
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Stoffwechsellabor

ALEMANHA

Berlin
BERLIN

Financiado por um membro do IRDiRCEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 4)
Charité - Universitätsmedizin Berlin (CVK)
Institut für Medizinische Genetik und Humangenetik

ALEMANHA

Nordrhein-Westfalen
MÜNSTER

CDG syndromes: Identification and characterisation of human glycosylation defects
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory

FRANCA

HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ

Financiado por um membro do IRDiRCEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation - FR
Faculté des Sciences et Technologies - Université de Lille
UGSF - Unité de glycobiologie structurale et fonctionnelle

ALEMANHA

Baden-Württemberg
TÜBINGEN

Financiado por um membro do IRDiRCTreatHSP-Net: Network for translational research on hereditary spastic paraplegia -coordination
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

ALEMANHA

Baden-Württemberg
TÜBINGEN

Financiado por um membro do IRDiRCTreatHSP-Net: The 'diagnostic gap' in HSP - non-coding variants in known HSP genes
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

ALEMANHA

Baden-Württemberg
TÜBINGEN

Financiado por um membro do IRDiRCTreatHSP-Net: The 'diagnostic gap' in HSP - non-coding variants in known HSP genes
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

ALEMANHA

Bayern
ERLANGEN

Financiado por um membro do IRDiRCTreatHSP-Net: Sensor-based monitoring of gait disorder in HSP patients with implementation in everyday life
Universitätsklinikum Erlangen - Kopfkliniken
Abteilung für Molekulare Neurologie

ALEMANHA

Bayern
REGENSBURG

Financiado por um membro do IRDiRCTreatHSP-Net: Sensor-based monitoring of gait disorder in HSP patients with implementation in everyday life
Klinik und Poliklinik für Neurologie der Universität Regensburg
Klinik und Poliklinik für Neurologie

ALEMANHA

Nordrhein-Westfalen
ESSEN

ALEMANHA

Thüringen
JENA

Financiado por um membro do IRDiRCTreatHSP-Net: Metabolomic investigations of selected mouse models for hereditary spastic paraplegia (HSP)
Institut für Humangenetik am Universitätsklinikum Jena
Institut für Humangenetik

AUSTRIA

TIROL
INNSBRUCK

Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders - AT
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie

CANADA

Ontario
OTTAWA

Financiado por um membro do IRDiRC'Emerging team in rare diseases: achieving the ''triple aim'' for inborn errors of metabolism'
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA

Ontario
OTTAWA, ONTARIO

Financiado por um membro do IRDiRC'Emerging team in rare diseases: achieving the ''triple aim'' for inborn errors of metabolism'
University of Ottawa
Department of Epidemiology and Community Medicine

CANADA

Québec
MONTRÉAL

Financiado por um membro do IRDiRCEmerging Team to identify and characterize novel and existing Hereditary Spastic Paraplegia (HSP) disease genes
CHUM Research Centre
Centre d'excellence en neuroscience de l'Université de Montréal

ESPANHA

Cataluña
L'HOSPITALET DE LLOBREGAT

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FINLANDIA

Finland
HELSINKI

FINLANDIA

Finland
HELSINKI

Hereditary neuropathy and spastic paraplegia: new mechanisms, biomarkers and treatment
University of Helsinki
Stem Cells and Metabolism Research Program

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

PORTUGAL

NORTE
PORTO

SPATAX: Análises Clínicas e Genética de Ataxias Cerebelares e Paraparésias Espásticas
Instituto de Biologia Molecular e Celular
Centro de Genética Preditiva e Preventiva

PORTUGAL

NORTE
PORTO

SPATAX: Análises Clínicas e Genética de Ataxias Cerebelares e Paraparésias Espásticas
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTUGAL

NORTE
SANTA MARIA DA FEIRA

REINO UNIDO

Cambridgeshire
CAMBRIDGE

Modeling spastic paraplegia gene molecular function and pathology in Drosophila
Department of Genetics - University of Cambridge
Department of Genetics

SUECIA

Region Stockholm
STOCKHOLM

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

SUICA

Suisse Alémanique
ZÜRICH

Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

SUICA

Suisse Romande
LAUSANNE

Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont -
CMM - Centre des Maladies Moléculaires

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

ESPANHA

Madrid
MADRID

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

Projetos de investigação multicêntricos