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

   • Stefania Zampatti
   • Luca Colantoni
   • Emiliano Giardina

   Review Article 25 March 2019 Pages: 57 - 64

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

   • Hiroya Naruse
   • Takashi Matsukawa
   • Shoji Tsuji

   Original Article 07 March 2019 Pages: 65 - 71

   

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

   • Sofía Sánchez-Iglesias
   • Melissa Crocker
   • David Araújo-Vilar

   Original Article 23 March 2019 Pages: 73 - 82

   

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

   • Theresa A. Lansdell
   • Courtney Fisher
   • Stacie L. Demel

   Original Article 27 March 2019 Pages: 83 - 89

   

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

   • Edmund S. Cauley
   • Ahlam Hamed
   • M. Chiara Manzini

   Original Article 13 April 2019 Pages: 91 - 98

   

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

   • Eliana Marisa Ramos
   • Alessandro Roca
   • Giovanni Coppola

   Short Communication 21 March 2019 Pages: 99 - 102

   

7. Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

   • Andrea Accogli
   • Laura Russell
   • Myriam Srour

   Short Communication 28 March 2019 Pages: 103 - 108

   

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

   • Saud Alsahli
   • Ahmed Alfares
   • Fuad Al Mutairi

   Short Communication 10 April 2019 Pages: 109 - 115