Works matching IS 13646745 AND DT 2018 AND VI 19 AND IP 2

Results: 8

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Published in:

Neurogenetics, 2018, v. 19, n. 2, p. 111, doi. 10.1007/s10048-018-0545-9

By:

Travaglini, Lorena;
Aiello, Chiara;
Stregapede, Fabrizia;
D’Amico, Adele;
Alesi, Viola;
Ciolfi, Andrea;
Bruselles, Alessandro;
Catteruccia, Michela;
Pizzi, Simone;
Zanni, Ginevra;
Loddo, Sara;
Barresi, Sabina;
Vasco, Gessica;
Tartaglia, Marco;
Bertini, Enrico;
Nicita, Francesco

Publication type:

Article

Genetic test utilization and diagnostic yield in adult patients with neurological disorders.

Published in:

Neurogenetics, 2018, v. 19, n. 2, p. 105, doi. 10.1007/s10048-018-0544-x

By:

Bardakjian, Tanya M.;
Helbig, Ingo;
Quinn, Colin;
Elman, Lauren B.;
McCluskey, Leo F.;
Scherer, Steven S.;
Gonzalez-Alegre, Pedro

Publication type:

Article

WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.

Published in:

Neurogenetics, 2018, v. 19, n. 2, p. 67, doi. 10.1007/s10048-018-0539-7

By:

Masingue, Marion;
Perrot, Jimmy;
Carlier, Robert-Yves;
Piguet-Lacroix, Guenaelle;
Latour, Philippe;
Stojkovic, Tanya

Publication type:

Article

Phenotypic manifestations of the m.8969G>A variant.

Published in:

Neurogenetics, 2018, v. 19, n. 2, p. 131, doi. 10.1007/s10048-018-0543-y

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda

Publication type:

Article

Reply to ‘Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant’.

Published in:

Neurogenetics, 2018, v. 19, n. 2, p. 133, doi. 10.1007/s10048-018-0542-z

By:

Isohanni, Pirjo;
Carroll, Christopher J.;
Jackson, Christopher B.;
Pohjanpelto, Max;
Lönnqvist, Tuula;
Suomalainen, Anu

Publication type:

Article

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Published in:

Neurogenetics, 2018, v. 19, n. 2, p. 93, doi. 10.1007/s10048-018-0541-0

By:

Smol, T.;
Petit, F.;
Piton, A.;
Keren, B.;
Sanlaville, D.;
Afenjar, A.;
Baker, S.;
Bedoukian, E. C.;
Bhoj, E. J.;
Bonneau, D.;
Boudry-Labis, E.;
Bouquillon, S.;
Boute-Benejean, O.;
Caumes, R.;
Chatron, N.;
Colson, C.;
Coubes, C.;
Coutton, C.;
Devillard, F.;
Dieux-Coeslier, A.

Publication type:

Article

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Published in:

Neurogenetics, 2018, v. 19, n. 2, p. 77, doi. 10.1007/s10048-018-0540-1

By:

Ranieri, C.;
Di Tommaso, S.;
Loconte, D. C.;
Grossi, V.;
Sanese, P.;
Bagnulo, R.;
Susca, F. C.;
Forte, G.;
Peserico, A.;
De Luisi, A.;
Bartuli, A.;
Selicorni, A.;
Melis, D.;
Lerone, M.;
Praticò, A. D.;
Abbadessa, G.;
Yu, Y.;
Schwartz, B.;
Ruggieri, Martino;
Simone, Cristiano

Publication type:

Article

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Published in:

Neurogenetics, 2018, v. 19, n. 2, p. 123, doi. 10.1007/s10048-018-0538-8

By:

Mari, Francesco;
Berti, Beatrice;
Romano, Alessandro;
Baldacci, Jacopo;
Rizzi, Riccardo;
Grazia Alessandrì, M.;
Tessa, Alessandra;
Procopio, Elena;
Rubegni, Anna;
Lourenḉo, Charles Marques;
Simonati, Alessandro;
Guerrini, Renzo;
Santorelli, Filippo Maria

Publication type:

Article