Neurology® Genetics. vol. 7 n. 4

Neurology® Genetics. vol. 7 n. 4

Volumen:

Veure revista:

Neurology® Genetics

Any publicació:

2021

En aquest número

Article
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene.
Autor/s:
Sung A, Moretti P, Shaibani A.
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e599
Article
Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease.
Autor/s:
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.
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e600
Article
Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability.
Autor/s:
Lewis SA, Bakhtiari S, Heim J, Cornejo P, Liu J, Huang A, Musmacker A, Jin SC, Bilguvar K, Padilla-Lopez SR, Kruer MC.
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e602
Article
SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis.
Autor/s:
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.
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e598
Article
Effect of Body Weight on Age at Onset in Huntington Disease: A Mendelian Randomization Study.
Autor/s:
van der Burg JMM, Weydt P, Landwehrmeyer GB, Aziz NA.
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e603
Article
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing.
Autor/s:
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.
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e608
Article
Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect.
Autor/s:
Leckie JN, Joel MM, Martens K, King A, King M, Korngut LW, de Koning APJ, Pfeffer G, Schellenberg KL.
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e607
Article
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia.
Autor/s:
Shaibani A, Khan S, Shinawi M.
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e612
Article
Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia.
Autor/s:
Jordan C, Geisel G, Alecu JE, Zhang B, Sahin M, Ebrahimi-Fakhari D.
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e605
Article
Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele
Autor/s:
Kirby AE, Kimonis V, Kompoliti K
Clinical/Scientific Notes
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e595
Article
Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging
Autor/s:
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
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e601
Article
PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1
Autor/s:
Xiao C, Markello T, Zein WM, Bishop R, Groden C, Gahl W, Toro C
Clinical/Scientific Notes
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e606
Article
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
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e604
Article
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:...
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 4
https://ng.neurology.org/content/7/4/e611

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Neurology® Genetics. vol. 7 n. 4

Neurology® Genetics. vol. 7 n. 4

En aquest 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

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