Ausgabe 2/2018
Inhalt (8 Artikel)
WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon
Marion Masingue, Jimmy Perrot, Robert-Yves Carlier, Guenaelle Piguet-Lacroix, Philippe Latour, Tanya Stojkovic
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS)
C. Ranieri, S. Di Tommaso, D. C. Loconte, V. Grossi, P. Sanese, R. Bagnulo, F. C. Susca, G. Forte, A. Peserico, A. De Luisi, A. Bartuli, A. Selicorni, D. Melis, M. Lerone, A. D. Praticò, G. Abbadessa, Y. Yu, B. Schwartz, Martino Ruggieri, Cristiano Simone, Nicoletta Resta
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
T. Smol, F. Petit, A. Piton, B. Keren, D. Sanlaville, A. Afenjar, S. Baker, E. C. Bedoukian, E. J. Bhoj, D. Bonneau, E. Boudry-Labis, S. Bouquillon, O. Boute-Benejean, R. Caumes, N. Chatron, C. Colson, C. Coubes, C. Coutton, F. Devillard, A. Dieux-Coeslier, M. Doco-Fenzy, L. J. Ewans, L. Faivre, E. Fassi, M. Field, C. Fournier, C. Francannet, D. Genevieve, I. Giurgea, A. Goldenberg, A. K. Green, A. M. Guerrot, D. Heron, B. Isidor, B. A. Keena, B. L. Krock, P. Kuentz, E. Lapi, N. Le Meur, G. Lesca, D. Li, I. Marey, C. Mignot, C. Nava, A. Nesbitt, G. Nicolas, C. Roche-Lestienne, T. Roscioli, V. Satre, A. Santani, M. Stefanova, S. Steinwall Larsen, P. Saugier-Veber, S. Picker-Minh, C. Thuillier, A. Verloes, G. Vieville, M. Wenzel, M. Willems, S. Whalen, Y. A. Zarate, A. Ziegler, S. Manouvrier-Hanu, V. M. Kalscheuer, B. Gerard, Jamal Ghoumid
Genetic test utilization and diagnostic yield in adult patients with neurological disorders
Tanya M. Bardakjian, Ingo Helbig, Colin Quinn, Lauren B. Elman, Leo F. McCluskey, Steven S. Scherer, Pedro Gonzalez-Alegre
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
Lorena Travaglini, Chiara Aiello, Fabrizia Stregapede, Adele D’Amico, Viola Alesi, Andrea Ciolfi, Alessandro Bruselles, Michela Catteruccia, Simone Pizzi, Ginevra Zanni, Sara Loddo, Sabina Barresi, Gessica Vasco, Marco Tartaglia, Enrico Bertini, Francesco Nicita
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review
Francesco Mari, Beatrice Berti, Alessandro Romano, Jacopo Baldacci, Riccardo Rizzi, M. Grazia Alessandrì, Alessandra Tessa, Elena Procopio, Anna Rubegni, Charles Marques Lourenḉo, Alessandro Simonati, Renzo Guerrini, Filippo Maria Santorelli
Phenotypic manifestations of the m.8969G>A variant
Josef Finsterer, Sinda Zarrouk-Mahjoub
Reply to ‘Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant’
Pirjo Isohanni, Christopher J. Carroll, Christopher B. Jackson, Max Pohjanpelto, Tuula Lönnqvist, Anu Suomalainen