Neurology® Genetics. vol. 8 n. 3

Neurology® Genetics. vol. 8 n. 3

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Neurology® Genetics

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2022

En aquest número

Neurology® Genetics Acknowledgment to Reviewers
Autor/s:
Pulst S
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e671
Article
Epilepsy Course and Developmental Trajectories in STXBP1-DEE.
Autor/s:
Balagura G, Xian J, Riva A, Marchese F, Ben Zeev B, Rios L, Sirsi D, Accorsi P, Amadori E, Astrea G, Baldassari S, Beccaria F, Boni A, Budetta M, Cantalupo G, Capovilla G, Cesaroni E, Chiesa V, Coppola A, Dilena R, Faggioli R, Ferrari A, Fiorini E, Madia F, Gennaro E, Giacomini T, Giordano L,...
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e676
Article
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss.
Autor/s:
Višnjar T, Maver A, Writzl K, Maloku O, Bergant G, Jaklič H, Neubauer D, Fogolari F, Pečarič Meglič N, Peterlin B.
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e677
Article
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke: Gene-Based and Gene Set Analyses.
Autor/s:
Peng H, Fan Y, Li J, Zheng X, Zhong C, Zhu Z, He Y, Zhang M, Zhang Y.
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e679
Article
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo
Autor/s:
Watanabe K, Nakashima M, Wakatsuki R, Bunai T, Ouchi Y, Nakamura T, Miyajima H, Saitsu H
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e682
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
Correction
Correction for: McKnight D, Bristow SL, Truty RM, Morales A, Stetler M, Westbrook MJ, Robinson K, Riethmaier D, Borlot F, Kellogg M, Hwang ST, Berg A, Aradhya S. Multigene Panel Testing in a Large Cohort of Adults With Epilepsy Diagnostic Yield and Clinically Actionable Genetic Findings . Neurol...
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e674
Correction & Replacement
Correction for: Daghals I, Sargurupremraj M, Danning R, Gormley P, Malik R, Amouyel P, Metso T, Pezzini A, Kurth T, Debette S, Chasman D. Migraine, Stroke, and Cervical Arterial Dissection Shared Genetics for a Triad of Brain Disorders With Vascular Involvement. Neurol Genet. 2022 Feb 1;8(1):e653...
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 3
https://ng.neurology.org/content/8/3/e675

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Neurology® Genetics. vol. 8 n. 3

Neurology® Genetics. vol. 8 n. 3

En aquest número

Neurology® Genetics Acknowledgment to Reviewers

Epilepsy Course and Developmental Trajectories in STXBP1-DEE.

Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss.

DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke: Gene-Based and Gene Set Analyses.

Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo

Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia.

Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia

Progress in Amyotrophic Lateral Sclerosis Gene Discovery: Reflecting on Classic Approaches and Leveraging Emerging Technologies

Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic Strategies: A Review.

Vanishing White Matter Disease Presenting as Dementia and Infertility: A Case Report.

The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations.

On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy.

Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant

A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3.

Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene.

Correction

Correction & Replacement

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