Mathieu Anheim

Best Publications

• Neurologic Features in Severe SARS-CoV-2 Infection.

  Julie Helms;Stéphane Kremer;Hamid Merdji;Raphaël Clere-Jehl

  2829
  Citations

• G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.

  Suzanne Lesage;Mathieu Anheim;Franck Letournel;Luc Bousset

  866
  Citations

• Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

  Suzanne Lesage;Valérie Drouet;Elisa Majounie;Vincent Deramecourt

  454
  Citations

• The autosomal recessive cerebellar ataxias.

  Mathieu Anheim;Christine Tranchant;Michel Koenig

  426
  Citations

• Delirium and encephalopathy in severe COVID-19: a cohort analysis of ICU patients.

  Julie Helms;Stéphane Kremer;Hamid Merdji;Malika Schenck

  357
  Citations

• Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

  Giovanni Stevanin;Hamid Azzedine;Paola Denora;Amir Boukhris

  283
  Citations

• Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

  M. Anheim;B. Monga;B. Monga;M. Fleury;P. Charles

  274
  Citations

• Trial of Lixisenatide in Early Parkinson’s Disease

  Unknown

  266
  Citations

• Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

  Gaël Nicolas;Cyril Pottier;Camille Charbonnier;Lucie Guyant-Maréchal

  262
  Citations

• Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

  Chantal Sellier;Ronald A.M. Buijsen;Fang He;Fang He;Sam Natla

  242
  Citations

• Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

  M. Anheim;M. Fleury;B. Monga;B. Monga;V. Laugel

  232
  Citations

• Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

  Mohamad Saad;Mohamad Saad;Suzanne Lesage;Suzanne Lesage;Suzanne Lesage;Aude Saint-Pierre;Aude Saint-Pierre;Jean-Christophe Corvol

  198
  Citations

• FXTAS New insights and the need for revised diagnostic criteria

  Emmanuelle Apartis;Anne Blancher;Wassilios G. Meissner;Lucie Guyant-Maréchal

  187
  Citations

• Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

  Stephan Klebe;Christel Depienne;Sylvie Gerber;Georges Challe

  184
  Citations

• Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

  Sascha Vermeer;Alexander Hoischen;Rowdy P.P. Meijer;Christian Gilissen

  170
  Citations

• Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update

  Marc C. Patterson;Peter Clayton;Paul Gissen;Mathieu Anheim

  170
  Citations

• Large-scale replication and heterogeneity in Parkinson disease genetic loci

  Manu Sharma;John P.A. Ioannidis;Jan O. Aasly;Grazia Annesi

  160
  Citations

• The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

  Martial Mallaret;Matthis Synofzik;Jaeho Lee;Cari A. Sagum

  149
  Citations

• Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.

  Andreas Traschütz;Andrea Cortese;Selina Reich;Selina Reich;Natalia Dominik

  149
  Citations

• SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

  Matthis Synofzik;Katrien Smets;Martial Mallaret;Daniela Di Bella

  145
  Citations