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Mathieu Anheim

Affiliation : 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

• 11Publications (affiliation in France)
• 422Total publications
• 16573Citations
• 61h-index

ORCIDOpenAlex

Research profile

Mathieu Anheim has 11 indexed publications (2007–2020). Their work appears mainly in “Brain”, “Journal of Neurology” and “Annals of Neurology”. Their most cited article, “ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency” (2008), has been cited 327 times. 3 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in Tunisia, Italy, Argentina.

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Research areas

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

Publications (11)

• Characterization of Recessive Parkinson Disease in a Large Multicenter Study
  2020 · Annals of Neurology · cited 77 times
• 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 · cited 41 times
• SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
  2016 · Brain · cited 130 times
• Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases
  2016 · Journal of Neurology · cited 23 times
• 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 · cited 43 times
• Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
  2010 · Journal of Neurology · cited 19 times
• Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
  2009 · Brain · cited 249 times
• ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency
  2008 · The American Journal of Human Genetics · cited 327 times
• 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 · cited 257 times

Publication venues

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

Publications per year

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

Collaborations

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

Co-authors’ countries : Tunisia · Italy · Argentina

Co-authors

• 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

Bibliographic data from OpenAlex (open database).