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Items: 1 to 20 of 257

1.

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Zagnoli-Vieira G, Bruni F, Thompson K, He L, Walker S, de Brouwer APM, Taylor R, Niyazov D, Caldecott KW.

Neurol Genet. 2018 Aug 1;4(4):e262. doi: 10.1212/NXG.0000000000000262. eCollection 2018 Aug.

2.

GLRA1 mutation and long-term follow-up of the first hyperekplexia family.

Paucar M, Waldthaler J, Svenningsson P.

Neurol Genet. 2018 Aug 7;4(4):e259. doi: 10.1212/NXG.0000000000000259. eCollection 2018 Aug. No abstract available.

3.

De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity.

Ladds E, Whitney A, Dombi E, Hofer M, Anand G, Harrison V, Fratter C, Carver J, Barbosa IA, Simpson M, Jayawant S, Poulton J.

Neurol Genet. 2018 Aug 2;4(4):e258. doi: 10.1212/NXG.0000000000000258. eCollection 2018 Aug. No abstract available.

4.

Association study between multiple system atrophy and TREM2 p.R47H.

Ogaki K, Heckman MG, Koga S, Martens YA, Labbé C, Lorenzo-Betancor O, Walton RL, Soto AI, Vargas ER, Fujioka S, Uitti RJ, van Gerpen JA, Cheshire WP, Younkin SG, Wszolek ZK, Low PA, Singer W, Bu G, Dickson DW, Ross OA.

Neurol Genet. 2018 Aug 1;4(4):e257. doi: 10.1212/NXG.0000000000000257. eCollection 2018 Aug.

5.

Impaired transmissibility of atypical prions from genetic CJDG114V.

Cali I, Mikhail F, Qin K, Gregory C, Solanki A, Martinez MC, Zhao L, Appleby B, Gambetti P, Norstrom E, Mastrianni JA.

Neurol Genet. 2018 Aug 7;4(4):e253. doi: 10.1212/NXG.0000000000000253. eCollection 2018 Aug.

6.

Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene.

Hirano M, Samukawa M, Isono C, Saigoh K, Nakamura Y, Kusunoki S.

Neurol Genet. 2018 Aug 1;4(4):e252. doi: 10.1212/NXG.0000000000000252. eCollection 2018 Aug.

7.

Axon reflex-mediated vasodilation is reduced in proportion to disease severity in TTR-FAP.

Calero-Romero I, Suter MR, Waeber B, Feihl F, Kuntzer T.

Neurol Genet. 2018 Aug 2;4(4):e251. doi: 10.1212/NXG.0000000000000251. eCollection 2018 Aug.

8.

Population genealogy resource shows evidence of familial clustering for Alzheimer disease.

Cannon-Albright LA, Dintelman S, Maness T, Cerny J, Thomas A, Backus S, Farnham JM, Teerlink CC, Contreras J, Kauwe JSK, Meyer LJ.

Neurol Genet. 2018 Aug 1;4(4):e249. doi: 10.1212/NXG.0000000000000249. eCollection 2018 Aug.

9.

These violent repeats have violent extends.

Couthouis J, Gitler AD.

Neurol Genet. 2018 Aug 1;4(4):e247. doi: 10.1212/NXG.0000000000000247. eCollection 2018 Aug. No abstract available.

10.

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34).

Bourque PR, Warman-Chardon J, Lelli DA, LaBerge L, Kirshen C, Bradshaw SH, Hartley T, Boycott KM.

Neurol Genet. 2018 Jul 26;4(4):e263. doi: 10.1212/NXG.0000000000000263. eCollection 2018 Aug. No abstract available.

11.

Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1.

Freret ME, Anastasaki C, Gutmann DH.

Neurol Genet. 2018 Jul 23;4(4):e261. doi: 10.1212/NXG.0000000000000261. eCollection 2018 Aug. No abstract available.

12.

Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene.

Sung AR, Moretti P, Shaibani A.

Neurol Genet. 2018 Jul 27;4(4):e260. doi: 10.1212/NXG.0000000000000260. eCollection 2018 Aug. No abstract available.

13.

Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.

Hedberg-Oldfors C, Lindberg C, Oldfors A.

Neurol Genet. 2018 Jul 23;4(4):e254. doi: 10.1212/NXG.0000000000000254. eCollection 2018 Aug.

14.

Longitudinal analysis of contrast acuity in Friedreich ataxia.

Hamedani AG, Hauser LA, Perlman S, Mathews K, Wilmot GR, Zesiewicz T, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Lynch DR.

Neurol Genet. 2018 Jul 23;4(4):e250. doi: 10.1212/NXG.0000000000000250. eCollection 2018 Aug.

15.

ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome.

Vittal P, Pandya S, Sharp K, Berry-Kravis E, Zhou L, Ouyang B, Jackson J, Hall DA.

Neurol Genet. 2018 Jul 27;4(4):e246. doi: 10.1212/NXG.0000000000000246. eCollection 2018 Aug.

16.

Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy.

King MS, Thompson K, Hopton S, He L, Kunji ERS, Taylor RW, Ortiz-Gonzalez XR.

Neurol Genet. 2018 Jul 20;4(4):e256. doi: 10.1212/NXG.0000000000000256. eCollection 2018 Aug.

17.

SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology.

Castoro R, Simmons M, Ravi V, Huang D, Lee C, Sergent J, Zhou L, Li J.

Neurol Genet. 2018 Jul 20;4(4):e255. doi: 10.1212/NXG.0000000000000255. eCollection 2018 Aug.

18.

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma.

Machol K, Jankovic J, Vijayakumar D, Burrage LC, Jain M, Lewis RA, Fuller GN, Xu M, Penas-Prado M, Gule-Monroe MK, Rosenfeld JA, Chen R, Eng CM, Yang Y, Lee BH, Moretti PM; Undiagnosed Diseases Network, Dhar SU.

Neurol Genet. 2018 Jul 20;4(4):e248. doi: 10.1212/NXG.0000000000000248. eCollection 2018 Aug. No abstract available.

19.

Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis.

Wong JKL, Gui H, Kwok M, Ng PW, Lui CHT, Baum L, Sham PC, Kwan P, Cherny SS.

Neurol Genet. 2018 Jun 11;4(3):e245. doi: 10.1212/NXG.0000000000000245. eCollection 2018 Jun.

20.

Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsy.

Striano P, Nobile C.

Neurol Genet. 2018 Jun 11;4(3):e241. doi: 10.1212/NXG.0000000000000241. eCollection 2018 Jun. No abstract available.

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