Neurology® Genetics. vol. 7 n. 4

Neurology® Genetics. vol. 7 n. 4

Volumen:

Ver revista:

Neurology® Genetics

Año publicación:

2021

En este número

Artículo
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene.
Autor/es:
Sung A, Moretti P, Shaibani A.
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e599
Artículo
Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease.
Autor/es:
Oliveira LM, Rastin T, Nimmo GAM, Ross JP, Dion PA, Zhang M, Nevay DL, Arkadir D, Gotkine M, Barnett C, Shoesmith CL, Zimran A, Rogaeva EA, Zinman L, Rouleau GA, Gan-Or Z, Amato D, Kalia LV.
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e600
Artículo
Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability.
Autor/es:
Lewis SA, Bakhtiari S, Heim J, Cornejo P, Liu J, Huang A, Musmacker A, Jin SC, Bilguvar K, Padilla-Lopez SR, Kruer MC.
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e602
Artículo
SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis.
Autor/es:
Bos JW, Groen EJN, Wadman RI, Curial CAD, Molleman NN, Zegers M, van Vught PWJ, Snetselaar R, Vijzelaar R, van der Pol WL, van den Berg LH.
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e598
Artículo
Effect of Body Weight on Age at Onset in Huntington Disease: A Mendelian Randomization Study.
Autor/es:
van der Burg JMM, Weydt P, Landwehrmeyer GB, Aziz NA.
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e603
Artículo
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing.
Autor/es:
Reyes CJ, Laabs BH, Schaake S, Lüth T, Ardicoglu R, Rakovic A, Grütz K, Alvarez-Fischer D, Jamora RD, Rosales RL, Weyers I, König IR, Brüggemann N, Klein C, Dobricic V, Westenberger A, Trinh J.
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e608
Artículo
Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect.
Autor/es:
Leckie JN, Joel MM, Martens K, King A, King M, Korngut LW, de Koning APJ, Pfeffer G, Schellenberg KL.
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e607
Artículo
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia.
Autor/es:
Shaibani A, Khan S, Shinawi M.
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e612
Artículo
Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia.
Autor/es:
Jordan C, Geisel G, Alecu JE, Zhang B, Sahin M, Ebrahimi-Fakhari D.
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e605
Artículo
Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele
Autor/es:
Kirby AE, Kimonis V, Kompoliti K
Clinical/Scientific Notes
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e595
Artículo
Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging
Autor/es:
Kikumoto M, Nezu T, Shiga Y, Motoda A, Toko M, Kurashige T, Ueno H, Takahashi T, Morino H, Sone J, Iwasaki Y, Sobue G, Maruyama H
Clinical/Scientific Notes
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e601
Artículo
PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1
Autor/es:
Xiao C, Markello T, Zein WM, Bishop R, Groden C, Gahl W, Toro C
Clinical/Scientific Notes
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e606
Artículo
Correction
Correction for: Mastrangelo M, Manti F, Giannini MT, Guerrini R, Leuzzi V. KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood. Neurol Genet. 2020;6(5):e510. doi: 10.1212/NXG.0000000000000510. PMID: 33134511
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e604
Artículo
Correction
Correction for: Bakhtiari S, Tafakhori A, Jin SC, Guida BS, Alehabib E, Firouzbadi S, Bilguvar K, Fahey MC, Darvish H, Kruer MC. Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy. Neurol Genet. 2021;7(3):e583. doi: 10.1212/NXG.0000000000000583. PMID:...
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e611

Una iniciativa de:

Buscador

Neurology® Genetics. vol. 7 n. 4

Neurology® Genetics. vol. 7 n. 4

En este número

Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene.

Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease.

Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability.

SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis.

Effect of Body Weight on Age at Onset in Huntington Disease: A Mendelian Randomization Study.

Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing.

Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect.

Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia.

Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia.

Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele

Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1

Correction

Correction

¿Crees que falta información? ¡Haznos llegar tus sugerencias!