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Annals of Indian Academy of Neurology
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1A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony
Inge D. Wijnberg,Marta Owczarek-Lipska,Roberta Sacchetto,Francesco Mascarello,Francesco Pascoli,Walter Grünberg,Johannes H. van der Kolk,Cord Drögemüller
Neuromuscular Disorders.2012;22(4)361
[DOI]
2The study of exercise tests in paroxysmal kinesigenic dyskinesia
Hai-Yan Zhou,Fei-Xia Zhan,Wo-Tu Tian,Chao Zhang,Yan Wang,Ze-Yu Zhu,Xiao-Li Liu,Yang-Qi Xu,Xing-Hua Luan,Xiao-Jun Huang,Sheng-Di Chen,Li Cao
Clinical Neurophysiology.2018;129(11)2435
[DOI]
3CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita
Chiara Orsini,Roberta Petillo,Paola D'Ambrosio,Manuela Ergoli,Esther Picillo,Marianna Scutifero,Luigia Passamano,Alessandro De Luca,Luisa Politano
Frontiers in Neurology.2020;11(11)2435
[DOI]
4Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene
Daiane de Jesus Rodrigues,Adilson Donizeti Damasceno,César Erineudo Tavares de Araújo,Sandra Regina Torelli,Luine Gabriela Hilário Fonseca,Diego José Zanzarini Delfiol,José Paes de Oliveira-Filho,Joăo Pessoa Araújo-Júnior,Alexandre Secorun Borges
Neuromuscular Disorders.2020;30(12)991
[DOI]
5Distal renal tubular acidosis with hemolytic anemia and myotonia: Unusual phenotype of a known mutation
Gitanjali Jain,Suprita Kalra,Deepak Joshi
Asian Journal of Pediatric Nephrology.2019;2(2)91
[DOI]
6Canalopatías del músculo esquelético de base genética: parálisis periódicas y miotonías no distróficas
G. Zapata-Wainberg,M. Gallego de la Sacristana,J. Vivancos
Medicine - Programa de Formación Médica Continuada Acreditado.2015;11(75)4511
[DOI]
7Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita
Lucas Santos Souza,Priscila Calyjur,Antonio Fernando Ribeiro,Juliana Gurgel-Giannetti,Rita Cassia Mingroni Pavanello,Mayana Zatz,Mariz Vainzof
Journal of Molecular Neuroscience.2021;11(75)4511
[DOI]
8Hyperkalemic paralysis in primary adrenal insufficiency
Ajay Mishra,Nikhil Dave,Himanshu V. Pandya,Chinmaye M. Sapre,Sneha Chaudhary
Indian Journal of Critical Care Medicine.2014;18(8)527
[DOI]
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