Journal of Neurogenetics, Volume 35, Issue 2 (2021)

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Journal of Neurogenetics, Volume 35, Issue 2 (2021)

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Original Research Article

Article
Analysis of whole genome sequenced cases and controls shows that the association of variants in TOMM40, BCAM, NECTIN2 and APOC1 with late onset Alzheimer’s disease is driven by linkage disequilibrium with APOE ε2/ε3/ε4 alleles
David Curtis & Alzheimer's Disease Neuroimaging Initiative
Pages: 59-66
Published online: 10 May 2021
AbstractforAnalysis of whole genome sequenced cases and controls shows that the association of variants in TOMM40, BCAM, NECTIN2 and APOC1 with late onset Alzheimer’s disease is driven by linkage disequilibrium with APOE ε2/ε3/ε4 alleles | Full Text | References | PDF (811.7 KB) | EPUB | Supplemental
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Short Communication

Brief Report
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype
Antonio Gennaro Nicotera, Daniela Dicanio, Erica Pironti, Maria Bonsignore, Anna Cafeo, Stephanie Efthymiou, Patrizia Mondello, Vincenzo Salpietro, Henry Houlden & Gabriella Di Rosa
Pages: 67-73
Published online: 06 Apr 2021
AbstractforDe novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype | Full Text | References | PDF (1.1 MB) | EPUB | Supplemental
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Original Research Articles

Article
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy
Elizabeth A. Burke, Morgan Sturgeon, Diane B. Zastrow, Liliana Fernandez, Cameron Prybol, Shruti Marwaha, Edward P. Frothingham, Patricia A. Ward, Christine M. Eng, Laure Fresard, Stephen B. Montgomery, Gregory M. Enns, Paul G. Fisher, Lynne A. Wolfe, Brian Harding, Blake Carrington, Kevin Bishop, Raman Sood, Yan Huang, Abdel Elkahloun, Camilo Toro, Alexander G. Bassuk, Matthew T. Wheeler, Thomas C. Markello, William A. Gahl & May Christine V. Malicdan
Pages: 74-83
Published online: 10 May 2021
AbstractforCompound heterozygous KCTD7 variants in progressive myoclonus epilepsy | Full Text | References | PDF (2.1 MB) | EPUB | Supplemental
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Article
Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families
Mahdieh Pashaei, Atefeh Davarzani, Reza Hajati, Babak Zamani, Shahriar Nafissi, Farzaneh Larti, Yalda Nilipour, Mohammad Rohani & Afagh Alavi
Pages: 84-94
Published online: 26 Mar 2021
AbstractforDescription of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families | Full Text | References | PDF (1.9 MB) | EPUB | Supplemental
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