C. Davoine

发表

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

Bertrand Fontaine, Patrick Wincker, Jean Weissenbach, 1999, Nature Genetics.

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz‐Jampel syndrome

H. Kayserili, B. Fontaine, C. Davoine, 2006, Human mutation.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2019, Neurology.

Anti-PD-(L)1 for KRAS-mutant advanced non-small–cell lung cancers: a meta-analysis of randomized–controlled trials

C. Davoine, K. Chouahnia, B. Duchemann, 2021, Cancer Immunology, Immunotherapy.

No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24

K. Lindblad, A. Brice, G. Stevanin, 2000, Neuroscience Letters.

Effect of anakinra versus usual care in adults in hospital with COVID-19 and mild-to-moderate pneumonia (CORIMUNO-ANA-1): a randomised controlled trial

E. Vicaut, M. Dougados, M. Humbert, 2021, The Lancet Respiratory Medicine.

Acute generalized exanthematous pustulosis induced by hydroxychloroquine prescribed for COVID-19

É. Oksenhendler, C. Delaugerre, B. Plaud, 2020, The Journal of Allergy and Clinical Immunology: In Practice.

Schwartz-Jampel syndrome and perlecan deficiency.

B. Fontaine, C. Davoine, S. Nicole, 2005, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

S. Klebe, C. van Broeckhoven, A. Durr, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Capillary electrophoresis as a fragment screening tool to cross-validate hits from chromogenic assay: Application to FXIIa.

M. Fillet, C. Davoine, L. Pochet, 2021, Talanta.

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

J. Weissenbach, P. Beighton, D. Samson, 2000, Nature Genetics.

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

N. Romero, B. Eymard, B. Fontaine, 2013, Neuromuscular Disorders.

A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.

A. Echaniz-Laguna, J. Devaux, B. Fontaine, 2012, The American journal of pathology.

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.

M. Herbin, A. Echaniz-Laguna, A. Ferry, 2008, Human molecular genetics.

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

J. Weissenbach, J. Burgunder, J. Prud'homme, 2000, Human molecular genetics.

Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.

G. Gyapay, N. Drouot, C. Fizames, 1998, Genome research.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

A. Singleton, M. Vidailhet, A. Durr, 2018, JAMA neurology.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

N. Romero, P. Laforêt, B. Eymard, 2017, Journal of Neurology.

Factor XII/XIIa inhibitors: Their discovery, development, and potential indications.

M. Fillet, C. Davoine, L. Pochet, 2020, European journal of medicinal chemistry.

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

A. Durr, D. Hannequin, A. Brice, 2017, Brain : a journal of neurology.

A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia.

G. Gyapay, C. Fizames, D. Muselet, 1999, Genomics.

Sarilumab in adults hospitalised with moderate-to-severe COVID-19 pneumonia (CORIMUNO-SARI-1): An open-label randomised controlled trial

E. Vicaut, M. Dougados, M. Humbert, 2021, The Lancet Rheumatology.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

J. Weissenbach, J. Burgunder, J. Prud'homme, 1996, Brain : a journal of neurology.

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.

A. Dürr, A. Brice, C. Georgopoulos, 2002, American journal of human genetics.

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

J. Weissenbach, A. Durr, A. Dürr, 2000, American journal of human genetics.

Mutations in GFPT 1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregates myopathy with synaptopathy

Nathalie, N. Romero, P. Laforêt, 2017 .

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Response to Park et al.

A. Durr, A. Brice, C. Davoine, 2021, Genetics in Medicine.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans

Magali Bouhours, J. Willer, B. Fontaine, 2004, The Journal of physiology.

Surfaces and equipment contamination by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in the emergency department at a university hospital

É. Oksenhendler, C. Delaugerre, B. Plaud, 2020, International Journal of Hygiene and Environmental Health.

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

S. Klebe, A. Durr, A. Brice, 2023, Journal of Medical Genetics.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.