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Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
Nataly I. Montes-Chinea, Zhuo Guan, Marcella Coutts, et al.

October 22, 2018
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Congenital myopathies in the adult neuromuscular clinicDiagnostic challenges and pitfalls
Stefan Nicolau, Teerin Liewluck, Jennifer A. Tracy, et al.

June 04, 2019
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Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma
Kazimierz O. Wrzeszczynski, Mayu O. Frank, Takahiko Koyama, et al.

July 11, 2017
Article
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, et al.

October 24, 2018
Article
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
Maryam Sedghi, Mehri Salari, Ali-Reza Moslemi, et al.

December 03, 2018
Clinical/Scientific Notes
Expanding the global prevalence of spinocerebellar ataxia type 42
Kathie Ngo, Mamdouh Aker, Lauren E. Petty, et al.

April 05, 2018
Article
Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis
Yi Yang, Lei Zhang, David R. Lynch, et al.

March 03, 2016
Article
Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants
Karen Nuytemans, Lizmarie Maldonado, Aleena Ali, et al.

January 14, 2016
Article
Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease
Martin A. Kohli, Holly N. Cukier, Kara L. Hamilton-Nelson, et al.

January 14, 2016
Clinical/Scientific Notes
A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy
Nicolas N. Madigan, Jennifer A. Tracy, William J. Litchy, et al.

November 07, 2018

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