Issue 2/2019
Content (8 Articles)
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era
Stefania Zampatti, Luca Colantoni, Claudia Strafella, Rosaria Maria Galota, Valerio Caputo, Giulia Campoli, Giulia Pagliaroli, Stefania Carboni, Julia Mela, Cristina Peconi, Stefano Gambardella, Raffaella Cascella, Emiliano Giardina
Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations
Hiroya Naruse, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Hiroki Takano, Jun Goto, Tatsushi Toda, Shoji Tsuji
Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
Sofía Sánchez-Iglesias, Melissa Crocker, Mar O’Callaghan, Alejandra Darling, Angels García-Cazorla, Rosario Domingo-Jiménez, Ana Castro, Antía Fernández-Pombo, Álvaro Ruibal, Pablo Aguiar, Miguel Garrido-Pumar, Antonio Rodríguez-Núñez, Julián Álvarez-Escudero, Rebecca J. Brown, David Araújo-Vilar
Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm
Theresa A. Lansdell, Courtney Fisher, Kent Simmonds, Mat J. Reeves, Daniel Woo, Anne M. Dorrance, Stacie L. Demel
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
Edmund S. Cauley, Ahlam Hamed, Inaam N. Mohamed, Maha Elseed, Samantha Martinez, Ashraf Yahia, Fatima Abozar, Rayan Abubakr, Mahmoud Koko, Liena Elsayed, Xianhua Piao, Mustafa A. Salih, M. Chiara Manzini
Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family
Eliana Marisa Ramos, Alessandro Roca, Noravit Chumchim, Deepika Reddy Dokuru, Victoria Van Berlo, Giovanna De Michele, Maria Lieto, Enrico Tedeschi, Giuseppe De Michele, Giovanni Coppola
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia
Andrea Accogli, Laura Russell, Guillaume Sébire, Jean-Baptiste Rivière, Judith St-Onge, Nassima Addour-Boudrahem, Alexandre Dionne Laporte, Guy A. Rouleau, Christine Saint-Martin, Myriam Srour
Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures
Saud Alsahli, Ahmed Alfares, Francisco J. Guzmán-Vega, Stefan T. Arold, Duaa Ba-Armah, Fuad Al Mutairi