Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era Stefania ZampattiLuca ColantoniEmiliano Giardina Review Article 25 March 2019 Pages: 57 - 64
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 NaruseTakashi MatsukawaShoji Tsuji Original Article 07 March 2019 Pages: 65 - 71
Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant Sofía Sánchez-IglesiasMelissa CrockerDavid Araújo-Vilar Original Article 23 March 2019 Pages: 73 - 82
Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm Theresa A. LansdellCourtney FisherStacie L. Demel Original Article 27 March 2019 Pages: 83 - 89
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556 Edmund S. CauleyAhlam HamedM. Chiara Manzini Original Article 13 April 2019 Pages: 91 - 98
Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family Eliana Marisa RamosAlessandro RocaGiovanni Coppola Short Communication 21 March 2019 Pages: 99 - 102
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia Andrea AccogliLaura RussellMyriam Srour Short Communication 28 March 2019 Pages: 103 - 108
Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures Saud AlsahliAhmed AlfaresFuad Al Mutairi Short Communication 10 April 2019 Pages: 109 - 115