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Zeitschrift

neurogenetics

neurogenetics 2/2018

Ausgabe 2/2018

Inhaltsverzeichnis ( 8 Artikel )

02.02.2018 | Original Article | Ausgabe 2/2018

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

16.03.2018 | Original Article | Ausgabe 2/2018 Open Access

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

06.03.2018 | Original Article | Ausgabe 2/2018

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

28.03.2018 | Original Article | Ausgabe 2/2018

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

24.04.2018 | Original Article | Ausgabe 2/2018

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

08.02.2018 | Short Communication | Ausgabe 2/2018

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

26.02.2018 | Letter to Editor | Ausgabe 2/2018

Phenotypic manifestations of the m.8969G>A variant

Josef Finsterer, Sinda Zarrouk-Mahjoub

26.02.2018 | Letter to Editor | Ausgabe 2/2018

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

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