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Article
Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia.
Autor/s:
Rodden LN, Rummey C, Dong YN, Lynch DR.
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e683
Article
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
Autor/s:
Lace B, Micule I, Kenina V, Setlere S, Strautmanis J, Kazaine I, Taurina G, Murmane D, Grinfelde I, Kornejeva L, Krumina Z, Sterna O, Radovica-Spalvina I, Vasiljeva I, Gailite L, Stavusis J, Livcane D, Kidere D, Malniece I, Inashkina I
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e685
Article de revisió
Progress in Amyotrophic Lateral Sclerosis Gene Discovery: Reflecting on Classic Approaches and Leveraging Emerging Technologies
Autor/s:
Smukowski SN, Maioli H, Latimer CS, Bird TD, Jayadev S, Valdmanis PN.
Review
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e669
Article de revisió
Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic Strategies: A Review.
Autor/s:
Breevoort S, Gibson S, Figueroa K, Bromberg M, Pulst S.
Review
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e670
Article
Vanishing White Matter Disease Presenting as Dementia and Infertility: A Case Report.
Autor/s:
Parihar J, Vibha D, Rajan R, Pandit AK, Srivastava AK, Prasad K.
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e643
Article
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations.
Autor/s:
Yang HJ, Park G, Nam-Goong IS, Ahn JW, Weon YC.
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e667
Article
On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy.
Autor/s:
van der Put J, Daugeliene D, Bergendal Å, Kvarnung M, Svenningsson P, Paucar M.
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e668
Article
Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant
Autor/s:
Beecher G, Liewluck T, Milone M
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e672
Article
A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3.
Autor/s:
Abe K, Ando K, Kato M, Saitsu H, Nakashima M, Aoki S, Kimura T.
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e680
Article
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene.
Autor/s:
Goerttler T, Zanetti L, Regoni M, Egger K, Kellner E, Deuschl C, Kleinschnitz C, Sassone J, Klebe S.
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e681