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neurogenetics

Volume 20, Issue 2, May 2019

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1. Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era

Tác giả

Stefania Zampatti, Luca Colantoni, Claudia Strafella, Rosaria Maria Galota.

2. Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations

Tác giả

Hiroya Naruse, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui.

3. Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

Tác giả

Sofía Sánchez-Iglesias, Melissa Crocker, Mar O’Callaghan.

4. Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm

Tác giả

Theresa A. Lansdell, Courtney Fisher, Kent Simmonds, Mat J. Reeves.

5. Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

Tác giả

Edmund S. Cauley, Ahlam Hamed, Inaam N. Mohamed, Maha Elseed.

6. Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family

Tác giả

Eliana Marisa Ramos, Alessandro Roca, Noravit Chumchim.

7. Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

Tác giả

Andrea Accogli, Laura Russell, Guillaume Sébire, Jean-Baptiste Rivière.

8. Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures

Tác giả

Saud Alsahli, Ahmed Alfares, Francisco J. Guzmán-Vega, Stefan T. Arold.