M
Mathieu Anheim
Researcher at University of Strasbourg
Publications - 98
Citations - 4954
Mathieu Anheim is an academic researcher from University of Strasbourg. The author has contributed to research in topics: Ataxia & Cerebellar ataxia. The author has an hindex of 23, co-authored 98 publications receiving 3428 citations. Previous affiliations of Mathieu Anheim include Centre national de la recherche scientifique & Collège de France.
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Journal ArticleDOI
Neurologic Features in Severe SARS-CoV-2 Infection.
Julie Helms,Stéphane Kremer,Hamid Merdji,Raphaël Clere-Jehl,Malika Schenck,Christine Kummerlen,Olivier Collange,Clotilde Boulay,Samira Fafi-Kremer,Mickaël Ohana,Mathieu Anheim,Ferhat Meziani +11 more
TL;DR: Neurologic Features in SARS-CoV-2 Infection In a consecutive series of 64 patients with Covid-19 and ARDS, 58 of whom underwent neurologic examination, severe agitation and corticospinal signs were found.
Journal ArticleDOI
ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency
Clotilde Lagier-Tourenne,Meriem Tazir,Luis C. López,Catarina M. Quinzii,Mirna Assoum,Nathalie Drouot,Cleverson Busso,Samira Makri,Lamia Alipacha,Traki Benhassine,Mathieu Anheim,David A. Lynch,Christelle Thibault,Frédéric Plewniak,Laurent Bianchetti,Christine Tranchant,Olivier Poch,Salvatore DiMauro,Jean-Louis Mandel,Mario H. Barros,Michio Hirano,M. Koenig +21 more
TL;DR: A SNP-based genome-wide scan in a large consanguineous family revealed a locus for autosomal-recessive ataxia at chromosome 1q41, and a phylogenetic analysis shows that ADCK3 belongs to the family of atypical kinases, which includes phosphoinositide and choline kinase, suggesting that ADCk3 plays an indirect regulatory role in ubiquinone biosynthesis possibly as part of a feedback loop that regulates ATP production.
Journal ArticleDOI
Delirium and encephalopathy in severe COVID-19: a cohort analysis of ICU patients.
Julie Helms,Stéphane Kremer,Hamid Merdji,Malika Schenck,François Severac,Raphaël Clere-Jehl,Antoine Studer,Mirjana Radosavljevic,Christine Kummerlen,Alexandra Monnier,Clotilde Boulay,Samira Fafi-Kremer,Vincent Castelain,Mickaël Ohana,Mathieu Anheim,Francis Schneider,Ferhat Meziani +16 more
TL;DR: TheDelirium/neurological symptoms in COVID-19 patients were responsible for longer mechanical ventilation compared to the patients without delirium or abnormal neurological symptoms, and could be secondary to systemic inflammatory reaction to SARS-CoV-2.
Journal ArticleDOI
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
Mathieu Anheim,B. Monga,B. Monga,Marie-Céline Fleury,P. Charles,C. Barbot,Mustafa A. Salih,J. P. Delaunoy,M. Fritsch,Larissa Arning,Matthis Synofzik,Ludger Schöls,Jorge Sequeiros,Cyril Goizet,Cecilia Marelli,I. Le Ber,Jeanette Koht,Jeanette Koht,José Gazulla,J. De Bleecker,Maowia M. Mukhtar,Nathalie Drouot,Lamia Alipacha,Traki Benhassine,M. Chbicheb,A. M’zahem,Abdelmadjid Hamri,Brigitte Chabrol,Jean Pouget,R. Murphy,Mitsunori Watanabe,Paula Coutinho,Meriem Tazir,Alexandra Durr,Alexis Brice,Christine Tranchant,Michel Koenig +36 more
TL;DR: In this article, a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequencing because of suspected ataxia with oculomotor apraxia type 2 (AOA2) was compiled.
Journal ArticleDOI
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,Muhammad Mahajnah,Rajech Sharkia,Nathalie Drouot,Mathilde Renaud,Fabrice A.C. Klein,Mathieu Anheim,Christine Tranchant,Cyril Mignot,Jean-Louis Mandel,Mark T. Bedford,Peter Bauer,Mustafa A. Salih,Rebecca Schüle,Rebecca Schüle,Ludger Schöls,C. Marcelo Aldaz,Michel Koenig,Michel Koenig +21 more
TL;DR: It is demonstrated that proline 47 is a key amino acid essential for maintaining the WWOX protein fully functional, with its mutation into a threonine resulting in a loss of peptide interaction for the first WW domain.