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Neuronal Cav3 channelopathies: recent progress and perspectives

Pflügers Archiv, 2020-07, Vol.472 (7), p.831-844

2020

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New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases

Frontiers in pharmacology, 2021-10, Vol.12, p.751095-751095

2021

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Persistent association between family socioeconomic status and primary school performance in Britain over 95 years

NPJ science of learning, 2022-04, Vol.7 (1), p.4-4, Article 4

2022

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Distinct neurological disorders with ATP1A3 mutations

Lancet neurology, 2014-05, Vol.13 (5), p.503-514

2014

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

Scientific reports, 2018-02, Vol.8 (1), p.1-13, Article 2041

2018

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

Scientific reports, 2018-11, Vol.8 (1), p.1-10, Article 16681

2018

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Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions

Journal of neuromuscular diseases, 2017, Vol.4 (4), p.269-284

2017

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The multiple faces of the ATP1A3-related dystonic movement disorder

Movement disorders, 2013-09, Vol.28 (10), p.1457-1459

2013

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

The Journal of cell biology, 2015-02, Vol.208 (3), p.313-329

2015

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

Human molecular genetics, 2008-10, Vol.17 (20), p.3166-3179

2008

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C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice

Frontiers in cellular neuroscience, 2023-04, Vol.17, p.1155929-1155929

2023

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

Journal of the neurological sciences, 2016-10, Vol.369, p.254-258

2016

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

Frontiers in pharmacology, 2016-01, Vol.6, p.314-314

2016

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Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS): Review of the Literature of a Rare Cause of Hyperinsulinemic Hypoglycemia

Biomedicines, 2023-06, Vol.11 (6), p.1732

2023

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An Uncommon Cause of Recurrent Presyncope, Dizziness, and Tachycardia: A Case Report of Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS)

Biomedicines, 2023-06, Vol.11 (6), p.1741

2023

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Skeletal muscle sodium channelopathies

Current opinion in neurology, 2015-10, Vol.28 (5), p.508-514

2015

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

Human molecular genetics, 2002-06, Vol.11 (12), p.1439-1447

2002

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

Nature genetics, 2000-12, Vol.26 (4), p.480-483

2000

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

Annals of clinical and translational neurology, 2015-04, Vol.2 (4), p.362-372

2015

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Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A

Brain (London, England : 1878), 2001-06, Vol.124 (6), p.1091-1099

2001

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Change and stability in the association of parents' education with children's intelligence

Intelligence (Norwood), 2022-01, Vol.90, p.101597, Article 101597

2022

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Null Leukemia Inhibitory Factor Receptor ( LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

American journal of human genetics, 2004-02, Vol.74 (2), p.298-305

2004

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Intact Satellite Cells Lead to Remarkable Protection against Smn Gene Defect in Differentiated Skeletal Muscle

The Journal of cell biology, 2003-05, Vol.161 (3), p.571-582

2003

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Voltage-Sensor Sodium Channel Mutations Cause Hypokalemic Periodic Paralysis Type 2 by Enhanced Inactivation and Reduced Current

Proceedings of the National Academy of Sciences - PNAS, 2000-08, Vol.97 (17), p.9549-9554

2000

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Spinal muscular atrophy: Recent advances and future prospects

Muscle & nerve, 2002-07, Vol.26 (1), p.4-13

2002

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Neuronal Cav3 channelopathies: recent progress and perspectives

New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases

Persistent association between family socioeconomic status and primary school performance in Britain over 95 years

Distinct neurological disorders with ATP1A3 mutations

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

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

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions

The multiple faces of the ATP1A3-related dystonic movement disorder

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

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

C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice

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

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS): Review of the Literature of a Rare Cause of Hyperinsulinemic Hypoglycemia

An Uncommon Cause of Recurrent Presyncope, Dizziness, and Tachycardia: A Case Report of Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS)

Skeletal muscle sodium channelopathies

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

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

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

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A

Change and stability in the association of parents' education with children's intelligence

Null Leukemia Inhibitory Factor Receptor ( LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Intact Satellite Cells Lead to Remarkable Protection against Smn Gene Defect in Differentiated Skeletal Muscle

Voltage-Sensor Sodium Channel Mutations Cause Hypokalemic Periodic Paralysis Type 2 by Enhanced Inactivation and Reduced Current

Spinal muscular atrophy: Recent advances and future prospects

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