List of works - Sophie Nicole

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

scientific article published on 13 August 2016

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.

scientific article published on 23 March 2012

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

scientific article published on 11 December 2015

A204E mutation in Na1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

scientific article published in Scientific Reports

Advances in the understanding of skeletal muscle weakness in murine models of diseases affecting nerve-evoked muscle activity, motor neurons, synapses and myofibers.

scientific article published on 10 June 2014

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

scientific article published on 20 June 2014

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

scientific article

Congenital myasthenic syndromes: an update.

scientific article

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

scientific article

Diseases caused by voltage-gated ion channels ⬇️

scientific article published on December 1, 1997

Distinct neurological disorders with ATP1A3 mutations

scientific article

Effect of locomotor training on muscle performance in the context of nerve-muscle communication dysfunction

scientific article published on 01 April 2012

Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin.

scientific article published in July 2009

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

scientific article published on 16 February 2015

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

scientific article published on 21 July 2008

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

scientific journal article

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle.

scientific article

Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic) ⬇️

scientific article published on October 1, 1998

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

scientific article published on 15 July 2017

Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model

scientific article published in June 2002

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

scientific article

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

scientific article published on 4 September 2013

Perlecan is recruited by dystroglycan to nodes of Ranvier and binds the clustering molecule gliomedin.

scientific article

Skeletal muscle sodium channelopathies.

scientific article published on 17 August 2015

Spinal muscular atrophy: recent advances and future prospects.

scientific article

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

scientific article published in February 2018

The 20th ion channel meeting: September 2009, France

scientific article published on 22 July 2010

The multiple faces of the ATP1A3-related dystonic movement disorder.

scientific article

[Congenital myasthenic syndromes; French experience]

scientific article published on 01 February 2014

List of works by Sophie Nicole

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

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 recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

A204E mutation in Na1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

Advances in the understanding of skeletal muscle weakness in murine models of diseases affecting nerve-evoked muscle activity, motor neurons, synapses and myofibers.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

Congenital myasthenic syndromes: an update.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Diseases caused by voltage-gated ion channels ⬇️

Distinct neurological disorders with ATP1A3 mutations

Effect of locomotor training on muscle performance in the context of nerve-muscle communication dysfunction

Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin.

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

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

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle.

Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic) ⬇️

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

Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

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

Perlecan is recruited by dystroglycan to nodes of Ranvier and binds the clustering molecule gliomedin.

Skeletal muscle sodium channelopathies.

Spinal muscular atrophy: recent advances and future prospects.

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

The 20th ion channel meeting: September 2009, France

The multiple faces of the ATP1A3-related dystonic movement disorder.

[Congenital myasthenic syndromes; French experience]