Amyotrophic lateral sclerosis due to a SOD1 mutation and X-linked recessive bulbospinal neuronopathy in a single family
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s13760-019-01124-4.pdf
Reference4 articles.
1. Foster LA, Salajegheh MK (2018) Motor neuron disease: pathophysiology, diagnosis, and management. Am J Med. https://doi.org/10.1016/j.amjmed.2018.07.012
2. de Carvalho M, Dengler R, Eisen A, England JD, Kaji R, Kimura J, Mills K, Mitsumoto H, Nodera H, Shefner J, Swash M (2008) Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol 119(3):497–503. https://doi.org/10.1016/j.clinph.2007.09.143
3. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Committee ALQA (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30
4. Bertolin C, D’Ascenzo C, Querin G, Gaiani A, Boaretto F, Salvoro C, Vazza G, Angelini C, Cagnin A, Pegoraro E, Soraru G, Mostacciuolo ML (2014) Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants. Neurobiol Aging 35(5):1212 e1217–e1212 e1210. https://doi.org/10.1016/j.neurobiolaging.2013.10.093
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