الرئيسية › دليل الباحثين › Mathieu Anheim

Mathieu Anheim

الانتماء : Centre National de la Recherche Scientifique · Inserm · Institut de génétique et de biologie moléculaire et cellulaire · Hôpitaux Universitaires de Strasbourg · Hôpital d'Hautepierre · Université de Strasbourg

• 11منشورات (انتماء فرنسي)
• 422مجموع المنشورات
• 16573الاستشهادات
• 61مؤشر h

ORCIDOpenAlex

مجالات البحث

• Genetic Neurodegenerative Diseases
• Neurological disorders and treatments
• Hereditary Neurological Disorders
• Parkinson's Disease Mechanisms and Treatments
• Neurological diseases and metabolism

المنشورات (11)

• Characterization of Recessive Parkinson Disease in a Large Multicenter Study
  2020 · Annals of Neurology · استُشهد به 77 مرة
• Genetic and Phenotypic Characterisation of Autosomal Recessive Parkinson's Disease in a Large Multicentre Cohort
  2019 · SSRN Electronic Journal
• Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1
  2018 · JAMA Neurology · استُشهد به 41 مرة
• SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
  2016 · Brain · استُشهد به 130 مرة
• Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases
  2016 · Journal of Neurology · استُشهد به 23 مرة
• The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism
  2013 · Journal of Neurology Neurosurgery & Psychiatry · استُشهد به 43 مرة
• Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
  2010 · Journal of Neurology · استُشهد به 19 مرة
• Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
  2009 · Brain · استُشهد به 249 مرة
• ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency
  2008 · The American Journal of Human Genetics · استُشهد به 327 مرة
• ARCA2 : une nouvelle ataxie cérébelleuse autosomique récessive liée à des mutations du gène ADCK3
  2008 · Revue Neurologique
• Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
  2007 · Brain · استُشهد به 257 مرة

مجلات النشر

• Brain × 3
• Journal of Neurology × 2
• Annals of Neurology × 1
• SSRN Electronic Journal × 1
• JAMA Neurology × 1
• Journal of Neurology Neurosurgery & Psychiatry × 1

المنشورات حسب السنة

• 20201
• 20191
• 20181
• 20162
• 20131
• 20101
• 20091
• 20082
• 20071

التعاون العلمي

المؤسسات الشريكة : Pitié-Salpêtrière Hospital · Université Pierre-et-Marie-Curie · Hopital Universitaire Habib Bourguiba · Hebrew University of Jerusalem · Hadassah Medical Center

بلدان المؤلفين المشاركين : تونس · إيطاليا · الأرجنتين

المؤلفون المشاركون

• Christine Tranchant
• Michel Koenig
• Alexandra Dürr
• Alexis Brice
• Nathalie Drouot
• François Viallet
• Emmanuel Broussolle
• Perrine Charles
• Mirna Assoum
• Martial Mallaret
• Clotilde Lagier‐Tourenne
• Suzanne Lesage

البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).