B. Fontaine

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

Dementia in two histologically confirmed cases of multiple sclerosis: one case with isolated dementia and one case associated with psychiatric symptoms.

C. Daumas-Duport, C. Duyckaerts, J. Hauw, 1994, Journal of neurology, neurosurgery, and psychiatry.

Tyrosine kinase 2 variant influences T lymphocyte polarization and multiple sclerosis susceptibility.

X. Montalban, M. Clanet, S. Vukusic, 2011, Brain : a journal of neurology.

A benign form of neuromyelitis optica: does it exist?

P. Vermersch, P. Cabre, C. Confavreux, 2011, Archives of neurology.

Distinct inflammatory phenotypes of microglia and monocyte‐derived macrophages in Alzheimer's disease models: effects of aging and amyloid pathology

B. Fontaine, E. Martin, C. Delarasse, 2016, Aging cell.

GWAS defines pathogenic signaling pathways and prioritizes drug targets for IgA nephropathy

F. Kronenberg, P. Gregersen, C. Wijmenga, 2021, medRxiv.

A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas.

B. Fontaine, A. Brézin, E. Tournier-Lasserve, 2002, Archives of ophthalmology.

A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

S. Bendahhou, B. Fontaine, S. Vicart, 2018, Scientific Reports.

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

S. Cannon, R. Griggs, R. Barohn, 2010, Brain : a journal of neurology.

Cold extends electromyography distinction between ion channel mutations causing myotonia

J. Willer, P. Laforêt, B. Eymard, 2006, Annals of neurology.

Investigation of sex-specific effects of apolipoprotein E on severity of EAE and MS

C. Graetz, L. Bertram, F. Zipp, 2015, Journal of Neuroinflammation.

Cytokines in genetic susceptibility to multiple sclerosis: a candidate gene approach

M. Babron, F. Clerget-Darpoux, G. Edan, 2000, Journal of Neuroimmunology.

Genome-wide significant association with seven novel multiple sclerosis risk loci

A. Alcina, F. Matesanz, X. Montalban, 2015, Journal of Medical Genetics.

No evidence for transmission disequilibrium between a new marker at the myelin basic protein locus and multiple sclerosis in French patients

M. Clanet, B. Pessac, B. Fontaine, 2000, Genes and Immunity.

Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis

H. Perdry, B. Müller-Myhsok, M. Babron, 2011, European Journal of Human Genetics.

Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans.

J. Ilonen, M. Ban, A. Goris, 2006 .

Genetics for understanding and predicting clinical progression in multiple sclerosis.

B. Fontaine, I. Cournu-Rebeix, B. Granger, 2011, Revue neurologique.

A vulnerability locus to multiple sclerosis maps to 7p15 in a region syntenic to an EAE locus in the rat

M. Clanet, G. Edan, B. Fontaine, 2004, Genes and Immunity.

Identification of a Val I 45 IIe substitution in the human myelin oligodendrocyte glycoprotein: lack of association with multiple sclerosis

J. Hauw, D. Pham‐Dinh, B. Zalc, 1997 .

A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility

Simon C. Potter, M. Pirinen, P. Donnelly, 2014, Genes and Immunity.

Variant form of STAT4 is associated with primary Sjögren's syndrome

F. Holsboer, M. Clanet, B. Müller-Myhsok, 2008, Genes and Immunity.

Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study

J. Haines, M. Pericak-Vance, E. Génin, 2004, Neurogenetics.

Intercellular adhesion molecule-1: a protective haplotype against multiple sclerosis

E. Génin, M. Clanet, F. Clerget-Darpoux, 2003, Genes and Immunity.

HLA-DRB1*15 allele influences the later course of relapsing remitting multiple sclerosis

E. Génin, E. Leray, H. Perdry, 2008, Genes and Immunity.

Familial factors influence disability in MS multiplex families

M. Clanet, G. Edan, D. Brassat, 1999, Neurology.

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho‐functional dysfunction

A. Durr, D. Hannequin, S. Forlani, 2011, Human mutation.

A systematic study of oligodendrocyte growth factors as candidates for genetic susceptibility to MS

M. Clanet, M. Babron, F. Clerget-Darpoux, 1998, Neurology.

Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor

S. Cannon, N. Kokubun, B. Fontaine, 2020, Brain communications.

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.

Muscle channelopathies and related diseases.

B. Fontaine, 2013, Handbook of clinical neurology.

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.

102nd ENMC International Workshop on Schwartz–Jampel Syndrome, 14–16 December, 2001, Naarden, The Netherlands

B. Fontaine, H. Topaloglu, S. Nicole, 2003, Neuromuscular Disorders.

Diseases caused by voltage-gated ion channels.

B. Fontaine, B. Fontaine, S. Nicole, 1997, Molecular aspects of medicine.

Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval

J. Weissenbach, P. Beighton, M. Hamida, 1996, Human Genetics.

Adaptive human immunity drives remyelination in a mouse model of demyelination

H. Abdi, V. Guillemot, B. Stankoff, 2017, Brain : a journal of neurology.

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

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

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

J. Pouget, B. Eymard, J. Warter, 1998, Neurology.

A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13

H. Chabriat, D. Hervé, J. Guichard, 2012, Neurology.

Parental origin of chromosome 22 loss in sporadic and NF2 neuromas.

R. Martuza, M. Sanson, O. Delattre, 1991, Genomics.

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.

Mechanisms underlying a life‐threatening skeletal muscle Na+ channel disorder

S. Bendahhou, D. Simkin, B. Fontaine, 2011, The Journal of physiology.

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations

V. Drouin‐Garraud, O. Dubourg, P. Laforêt, 2013, Neurology.

IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci

C. Gieger, M. Daly, L. Peltonen, 2010, Genes and Immunity.

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.

Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

L. Ptáček, T. Soong, B. Fontaine, 2010, Cell.

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes

B. Fontaine, H. Mochizuki, M. Takahashi, 2016, Journal of the Neurological Sciences.

Systemic autoimmune features and multiple sclerosis: a 5-year follow-up study.

R. Liblau, B. Weill, F. Batteux, 1998, Archives of neurology.

Neuromuscular disorders: Gene location

J. Kaplan, B. Fontaine, 1992, Neuromuscular Disorders.

[Nitric-oxide triggered neurological disorders in subjects with vitamin B12 deficiency].

F. Sedel, B. Fontaine, S. Vicart, 2007, Revue neurologique (Paris).

Genetic burden in multiple sclerosis families

M. Ban, S. Sawcer, A. Compston, 2013, Genes and Immunity.

Refining genetic associations in multiple sclerosis

Hanne F. Harbo, Margaret A. Pericak-Vance, Stephen L. Hauser, 2008, The Lancet Neurology.

Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders

W. Kress, P. Jeannet, T. Kuntzer, 2007, Muscle & nerve.

Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

C. Gieger, M. Perola, M. Farrer, 2011, PLoS genetics.

Systemic Autoimmune Features and Multiple Sclerosis

R. Liblau, B. Weill, F. Batteux, 2016 .

Guidelines on clinical presentation and management of nondystrophic myotonias

S. Cannon, R. Griggs, G. Meola, 2020, Muscle & nerve.

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2018, 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.

Molecular Diagnosis of Neurogenetic Disorders: Motoneuron, Peripheral Nerve and Muscle Disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel

P. Lory, B. Fontaine, P. Lapie, 1997, Neuromuscular Disorders.

1 – Molecular Genetic Analysis of the Phakomatoses

R. Martuza, J. Gusella, B. Seizinger, 1991 .

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families

J. Weissenbach, N. Baumann, A. Elbaz, 1994, Nature Genetics.

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

A. Durr, P. Ribai, I. Nelson, 2006, Journal of Neurology.

Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls.

Sandra D'Alfonso, Hanne F. Harbo, Bernhard Hemmer, 2013, American journal of human genetics.

Loss of chromosome 22 alleles in human sporadic spinal schwannomas

R. Martuza, J. Gusella, B. Fontaine, 1991, Annals of neurology.

Neuromyelitis optica in France

J Grimaud, G Castelnovo, J Pelletier, 2010, Neurology.

NEONATAL HYPOTONIA CAN BE A SODIUM CHANNELOPATHY: RECOGNITION OF A NEW PHENOTYPE

M. Hanna, B. Fontaine, S. Vicart, 2008, Neurology.

Central and Peripheral Nervous System Diseases

B. Fontaine, I. Cournu-Rebeix, D. Chabas, 2006 .

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene

J. Hauw, B. Eymard, B. Fontaine, 1996, Journal of the Neurological Sciences.

Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting.

R. Martuza, J. Gusella, B. Seizinger, 1990, American journal of human genetics.

The primary periodic paralyses: diagnosis, pathogenesis and treatment.

S. Cannon, R. Griggs, M. Tristani-Firouzi, 2006, Brain : a journal of neurology.

The Genetic Association of Variants in CD6, TNFRSF1A and IRF8 to Multiple Sclerosis: A Multicenter Case-Control Study

L. Peltonen, A. Goris, S. Sawcer, 2011, PloS one.

Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

H. Ullum, T. Werge, H. Hakonarson, 2018, Cell.

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.

V. Meininger, F. Salachas, E. Malfatti, 2013, Brain : a journal of neurology.

Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes.

F. Lehmann-Horn, K. Jurkat-Rott, B. Fontaine, 1995, The Journal of physiology.

Absence of Mutation in the SLC2A1 Gene in a Cohort of Patients with Alternating Hemiplegia of Childhood (AHC)

A. Arzimanoglou, B. Fontaine, S. Nicole, 2010, Neuropediatrics.

Apolipoprotein E and multiple sclerosis: A biochemical and genetic investigation

J. Delattre, B. Fontaine, A. Gervais, 1998, Journal of the Neurological Sciences.

Molecular Diagnosis of Neurogenetic Disorders: General Issues, Huntington's Disease, Parkinson's Disease and Dystonias

J. Finsterer, M. Zeviani, C. Broeckhoven, 2011 .

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

Periodic paralysis and voltage-gated ion channels.

Bertrand Fontaine, B. Fontaine, N. Tabti, 1996, Kidney international.

Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)

J. Weissenbach, A. Elbaz, F. Lehmann-Horn, 1994, Human Genetics.

A Japanese family of autosomal dominant hypokalemic periodic paralysis with a CACNL1A3 gene mutation

M. Watanabe, B. Fontaine, Y. Itoyama, 1996 .

Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle α 1S subunit as expressed in mouse L cells

P. Lory, C. Goudet, B. Fontaine, 1996, FEBS letters.

Glucocorticoids may trigger attacks in several types of periodic paralysis

B. Eymard, B. Fontaine, S. Vicart, 2009, Neuromuscular Disorders.

Mutations in the Muscle Sodium Channel Gene (SCN4A) in 13 French Families with Hyperkalemic Periodic Paralysis and Paramyotonia Congenita: Phenotype to Genotype Correlations and Demonstration of the Predominance of Two Mutations

G. Serratrice, F. Chapon, C. Confavreux, 1994, European journal of human genetics : EJHG.

Primary periodic paralysis and muscle sodium channel.

B. Fontaine, 1994, Advances in nephrology from the Necker Hospital.

Periodic paralysis, myotonia congenita and sarcolemmal ion channels: A success of the candidate gene approach

B. Fontaine, 1993, Neuromuscular Disorders.

Hypokalemic Periodic Paralysis

P. Lory, S. Bendahhou, B. Hainque, 2014 .

Diagnosis and new treatment in muscle channelopathies

G. Meola, M. Hanna, B. Fontaine, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.

O. Devuyst, B. Fontaine, D. Sternberg, 2006, Biochemical and biophysical research communications.

Hereditary therrnosensitive neuropathy

N. Birouk, R. Gouider, T. Maisonobe, 1997, Neurology.

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

M. Baiget, A. Lasa, B. Fontaine, 1999, Journal of Neurology.

Genetic analysis of multiple sclerosis in Europeans: French data

S. Sawcer, A. Compston, E. Génin, 2003, Journal of Neuroimmunology.

Leukoencephalopathies associated with inborn errors of metabolism in adults

N. Baumann, F. Sedel, B. Fontaine, 2008, Journal of Inherited Metabolic Disease.

Different gene loci for hyperkalemic and hypokalemic periodic paralysis

J. Haines, J. Gusella, G. Rouleau, 1991, Neuromuscular Disorders.

A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4–S5 linker in fast inactivation

Magali Bouhours, J. Willer, B. Fontaine, 2005, The Journal of physiology.

Cold‐induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia

B. Fontaine, E. Fournier, D. Sternberg, 2009, The Journal of physiology.

The Purinergic Receptor P2X7 Triggers α-Secretase-dependent Processing of the Amyloid Precursor Protein*

J. Kanellopoulos, R. Auger, P. Gonnord, 2010, The Journal of Biological Chemistry.

Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach

F. Sedel, B. Fontaine, J. Saudubray, 2007, Journal of Inherited Metabolic Disease.

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients

V. Meininger, F. Salachas, A. Béhin, 2015, Annals of clinical and translational neurology.

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

C. Kubisch, T. Jentsch, B. Fontaine, 1998, Human molecular genetics.

Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy

F. Sedel, B. Fontaine, J. Saudubray, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy

C. Gieger, P. Deloukas, C. Wijmenga, 2013, PLoS genetics.

Localized proton magnetic resonance spectroscopy in relapsing remitting versus secondary progressive multiple sclerosis

E. Cabanis, R. Liblau, B. Fontaine, 1999, Neurology.

Power estimation for non-standardized multisite studies

Anisha Keshavan, Friedemann Paul, Mona K. Beyer, 2016, NeuroImage.

Molecular Diagnosis of Ataxias and Spastic Paraplegias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

J. Burgunder, J. Finsterer, M. Zeviani, 2010, European journal of neurology.

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

M. Ruberg, D. Hannequin, A. Dürr, 2004, Archives of neurology.

The phenotype of “pure” autosomal dominant spastic paraplegia

Y. Agid, A. Dürr, A. Brice, 1994, Neurology.

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

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

Subtle cognitive impairment but no dementia in patients with spastin mutations.

B. Dubois, M. Ruberg, A. Durr, 2003, Archives 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.

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

V. Meininger, F. Salachas, M. Amador, 2017, Neurobiology of Aging.

New role of P2X7 receptor in an Alzheimer’s disease mouse model

B. Delatour, J. Kanellopoulos, B. Fontaine, 2018, Molecular Psychiatry.

Genes with triplet repeats: a new class of mutations causing neurological diseases.

B. Fontaine, E. Plassart, 1994, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Genetic interaction of CTLA‐4 with HLA‐DR15 in multiple sclerosis patients

E. Génin, M. Clanet, M. Trojano, 2003, Annals of neurology.

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.

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2 p 14 and 16 q 12 . 1

C. Gieger, M. Perola, M. Farrer, 2017 .

Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

C. Gieger, M. Perola, M. Farrer, 2011, PLoS Genetics.

MULTIPLE DURAL LESIONS MIMICKING MENINGIOMAS IN PATIENTS WITH CCM3/PDCD10 MUTATIONS

M. Clanet, J. Neau, B. Fontaine, 2009, Neurology.

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk

Shu-Chen Li, A. Alcina, F. Matesanz, 2013, Journal of Medical 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 .

Chromosome 17q22–q24 and multiple sclerosis genetic susceptibility

M. Pericak-Vance, M. Clanet, F. Clerget-Darpoux, 1999, Genes and Immunity.

Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis

L. Peltonen, J. Haines, M. Pericak-Vance, 2010, Nature Genetics.

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.

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.

Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes.

F. Chapon, S. Bendahhou, M. Larroque, 2009, American journal of physiology. Cell physiology.

Primary HIV infection with severe and unusual manifestations

B. Fontaine, A. Tourbah, P. Mazetti, 1992 .

Unexpected aggravation of Parkinson’s disease by a mesencephalic multiple sclerosis lesion

Y. Agid, M. Ribeiro, B. Stankoff, 2004, Journal of Neurology.

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

Emmanuel Dupoux, R. de Diego-Balaguer, A. Durr, 2016, PloS one.

Hereditary thermosensitive neuropathy

B. Fontaine, 1998, Neurology.

Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses

S. Bendahhou, B. Fontaine, S. Vicart, 2018, Scientific Reports.

Homozygosity for dominant mutations increases severity of muscle channelopathies

B. Eymard, B. Fontaine, C. Goizet, 2010, Muscle & nerve.

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.

A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis

Till F. M. Andlauer, J. Haines, M. Pericak-Vance, 2019, Nature Communications.

[Gait disorders with insidious progression in a 60-year old woman].

F. Viader, B. Fontaine, J-P Thénin, 2003, Revue neurologique.

[Symptomatic heterozygotic adrenoleukodystrophy in adults. 10 cases].

N. Baumann, B. Fontaine, O. Gout, 1993, Revue neurologique.

Erratum: Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current (Proceedings of National Academy of Sciences of the United States of America (Aug. 15, 2000) 97(17) (9549-9554))

Paul A. Iaizzo, Holger Lerche, Bertrand Fontaine, 2000 .

myotubesin skeletal muscle are revealed in human Mechanisms underlying Andersen's syndrome

Claude Desnuelle, Bertrand Fontaine, Savine Vicart, 2011 .

Introducing the online version of the gene table for neuromuscular disease (nuclear genes only)

C. Béroud, D. Hamroun, J. Kaplan, 2005, Neuromuscular Disorders.

PADI4 gene in multiple sclerosis: A family-based association study

P. Migliorini, B. Fontaine, I. Cournu-Rebeix, 2006, Journal of Neuroimmunology.

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

Emmanuel Dupoux, R. de Diego-Balaguer, A. Durr, 2016, PloS one.

Neuromuscular disorders: gene location

B. Fontaine, Kaplan Jc, 2001, Neuromuscular Disorders.

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

M. Pirinen, P. Donnelly, C. Spencer, 2013, Nature Genetics.

Dementia intwohistologically confirmed casesof multiple sclerosis: one casewithisolated dementia andone caseassociated withpsychiatric

C. Daumas-Duport, C. Duyckaerts, J. Hauw, 1994 .

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias

J. Finsterer, M. Zeviani, C. Broeckhoven, 2010, European journal of neurology.

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

R. Ophoff, B. Echenne, A. Elbaz, 1995, American journal of human genetics.

Unravelling the pathophysiology of calcium channel mutations causing neurological disorders.

B. Fontaine, N. Tabti, 2000, Brain : a journal of neurology.

Tyrosine kinase 2 variant influences T lymphocyte polarization and multiple sclerosis susceptibility.

X. Montalban, M. Clanet, S. Vukusic, 2011, Brain : a journal of neurology.

Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

Till F. M. Andlauer, H. Ullum, T. Werge, 2018, Cell.

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

S. Cannon, R. Griggs, R. Barohn, 2010, Brain : a journal of neurology.

Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls.

H. Hakonarson, M. Pericak-Vance, M. Ban, 2013, American journal of human genetics.

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

V. Meininger, F. Salachas, M. Amador, 2017, Neurobiology of Aging.

A benign form of neuromyelitis optica: does it exist?

P. Vermersch, P. Cabre, C. Confavreux, 2011, Archives of neurology.

A Benign Form of Neuromyelitis Optica

P. Vermersch, P. Cabre, C. Confavreux, 2011 .

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

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.