Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 79

1.

Genomic medicine enters the neurology clinic.

Coppola G, Geschwind DH.

Neurology. 2012 Jul 10;79(2):112-4. doi: 10.1212/WNL.0b013e31825f06d9. Epub 2012 Jun 6. No abstract available.

PMID:
22675078
2.

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.

Landouré G, Sullivan JM, Johnson JO, Munns CH, Shi Y, Diallo O, Gibbs JR, Gaudet R, Ludlow CL, Fischbeck KH, Traynor BJ, Burnett BG, Sumner CJ.

Neurology. 2012 Jul 10;79(2):192-4. doi: 10.1212/WNL.0b013e31825f04b2. Epub 2012 Jun 6. No abstract available.

3.

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.

Pierson TM, Adams DA, Markello T, Golas G, Yang S, Sincan M, Simeonov DR, Fuentes Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Teer JK, Mullikin JC; NISC Comparative Sequencing Program, Boerkoel CF, Gahl WA, Tifft CJ.

Neurology. 2012 Jul 10;79(2):123-6. doi: 10.1212/WNL.0b013e31825f047a. Epub 2012 Jun 6.

4.

Spinocerebellar ataxia type 14: opening a new door in dominant ataxia research?

Pandolfo M, van de Warrenburg BP.

Neurology. 2005 Apr 12;64(7):1113-4. No abstract available.

PMID:
15824330
5.

Codon 101 of PRKCG, a preferential mutation site in SCA14.

Nolte D, Klebe S, Baron R, Deuschl G, Müller U.

Mov Disord. 2007 Sep 15;22(12):1831-2. No abstract available.

PMID:
17659643
6.

The clinical and genetic spectrum of spinocerebellar ataxia 14.

Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, Bird TD.

Neurology. 2005 Apr 12;64(7):1258-60.

PMID:
15824357
7.

[Mutation analysis of a Chinese family with spinocerebellar ataxia 7].

Yu J, Ma JH, Lei J, Li HT, Zhang XN.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):685-7. doi: 10.3760/cma.j.issn.1003-9406.2010.06.019. Chinese.

PMID:
21154334
8.
9.

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.

Koutsis G, Lynch D, Manole A, Karadima G, Reilly MM, Houlden H, Panas M.

J Neurol. 2015 Aug;262(8):1972-5. doi: 10.1007/s00415-015-7800-x. Epub 2015 Jun 6. No abstract available. Erratum in: J Neurol. 2015 Aug;262(8):1976. Manone, Andreea [corrected to Manole, Andreea].

PMID:
26048687
10.

Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.

Nolte D, Landendinger M, Schmitt E, Müller U.

Mov Disord. 2007 Jan 15;22(2):265-7.

PMID:
17149711
12.

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

Kochanski A, Drac H, Kabzińska D, Hausmanowa-Petrusewicz I.

Neuromuscul Disord. 2004 Mar;14(3):229-32.

PMID:
15036333
13.

Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting!

Reilly MM.

Neurology. 2005 Jul 26;65(2):186-7. No abstract available.

PMID:
16043782
14.

A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.

Karadima G, Panas M, Floroskufi P, Kalfakis N, Vassilopoulos D.

J Neurol. 2004 Feb;251(2):222-3. No abstract available.

PMID:
14991359
15.
16.

Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).

Sorour E, Upadhyaya M.

Hum Mutat. 1998;Suppl 1:S242-7. No abstract available.

PMID:
9452099
17.

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

Santamaria R, Blanco M, Chabás A, Grinberg D, Vilageliu L.

Clin Genet. 2007 Mar;71(3):273-9.

PMID:
17309651
18.

[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease].

Liu XM, Tang BS, Zhao GH, Xia K, Zhang FF, Pan Q, Cai F, Hu ZM, Zhang C, Chen B, Shen L, Zhang RX, Jiang H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Oct;22(5):510-3. Chinese.

PMID:
16215937
19.

Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14.

Klebe S, Faivre L, Forlani S, Dussert C, Tourbah A, Brice A, Stevanin G, Durr A.

Arch Neurol. 2007 Jun;64(6):913-4. No abstract available.

PMID:
17562946
20.

Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia.

Xu Q, Li XH, Wang JL, Jiang H, Zhang S, Lei LF, Shen L, Xia K, Pan Q, Long ZG, Tang BS.

J Clin Neurosci. 2009 Oct;16(10):1374-5. doi: 10.1016/j.jocn.2009.05.004. Epub 2009 Jul 5.

PMID:
19581089

Supplemental Content

Support Center