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Results for
""Myasthenic Syndromes, Congenital""[mesh_terms]

13 Results

Searching titles within these results

Electrophysiological evaluation of the neuromuscular junction: a brief review.

João Aris Kouyoumdjian, Eduardo de Paula Estephan

Arquivos de neuro-psiquiatria 2024;81(12):1040-1052

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Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.

Wotu Tian, Li Cao, Xinghua Luan

Clinical neurology and neurosurgery 2017;150():41-45

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A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating.

Duygu Selcen, Xin-Ming Shen, Li Di, Shelley Shen, Yuying Zhao, Ann M Neumeyer, Steven M Sine, Andrew G Engel

Experimental neurology 2021;331():113375

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Differential diagnosis of myasthenic syndromes.

I Milanov, B Ishpekova

Electromyography and clinical neurophysiology 2001;41(1):17-21

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Management of myasthenic conditions: nonimmune issues.

Zohar Argov

Current opinion in neurology 2009;22(5):493-7

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Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.

Kinji Ohno, Bisei Ohkawara, Xin-Ming Shen, Duygu Selcen, Andrew G Engel

International journal of molecular sciences 2023;24(4):3730

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Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Jean-François Desaphy, Concetta Altamura, Savine Vicart, Bertrand Fontaine

Journal of neuromuscular diseases 2021;8(3):357-381

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Myasthenia and related disorders of the neuromuscular junction.

Jennifer Spillane, David J Beeson, Dimitri M Kullmann

Journal of neurology, neurosurgery, and psychiatry 2015;81(8):850-7

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The second point mutation in PREPL: a case report and literature review.

Sebastian Silva, Noriko Miyake, Carolina Tapia, Naomichi Matsumoto

Journal of human genetics 2018;63(5):677-681

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How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.

Paulo José Lorenzoni, Rosana Herminia Scola, Claudia Suemi Kamoi Kay, Lineu Cesar Werneck, Rita Horvath, Hanns Lochmüller

Neuromolecular medicine 2019;20(2):205-214

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Human disorders caused by the disruption of the regulation of excitatory neurotransmission.

Ortrud K Steinlein

Results and problems in cell differentiation 2008;44():223-42

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Autoimmune channelopathies: well-established and emerging immunotherapy-responsive diseases of the peripheral and central nervous systems.

Angela Vincent

Journal of clinical immunology 2010;30 Suppl 1():S97-102

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Distinct phenotypes of congenital acetylcholine receptor deficiency.

G Burke, J Cossins, S Maxwell, S Robb, M Nicolle, A Vincent, J Newsom-Davis, J Palace, D Beeson

Neuromuscular disorders : NMD 2004;14(6):356-64

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Results: 1 – 13 / 13

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Expert Opinion

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Results for ""Myasthenic Syndromes, Congenital""[mesh_terms]

Electrophysiological evaluation of the neuromuscular junction: a brief review.

Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.

A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating.

Differential diagnosis of myasthenic syndromes.

Management of myasthenic conditions: nonimmune issues.

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Myasthenia and related disorders of the neuromuscular junction.

The second point mutation in PREPL: a case report and literature review.

How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.

Human disorders caused by the disruption of the regulation of excitatory neurotransmission.

Autoimmune channelopathies: well-established and emerging immunotherapy-responsive diseases of the peripheral and central nervous systems.

Distinct phenotypes of congenital acetylcholine receptor deficiency.

Results for
""Myasthenic Syndromes, Congenital""[mesh_terms]