Lista de obras - Sophie Nicole - Dominio Público Uruguay

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Congenital myasthenic syndromes: an update.

artículo científico publicado en 2013

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

artículo científico publicado en 2012

Diseases caused by voltage-gated ion channels ⬇️

artículo científico publicado el 1 de diciembre de 1997

Distinct neurological disorders with ATP1A3 mutations

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2003

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

artículo científico publicado el 1 de octubre de 1998

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

artículo científico publicado en 2017

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

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Skeletal muscle sodium channelopathies.

artículo científico

Spinal muscular atrophy: recent advances and future prospects.

artículo científico publicado en 2002

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

artículo científico publicado en 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.

artículo científico publicado en 2013

[Congenital myasthenic syndromes; French experience]

artículo científico publicado en 2014

Lista de obras de 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]