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
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
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
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