Bhatia KP - Search Results

1

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW. Mencacci NE, et al. Among authors: bhatia kp. Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983243 Free PMC article.

2

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.

Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kühn AA, Strom TM, Vidailhet M, Bhatia KP, Dürr A, Wood NW, Brice A, Gasser T. Asmus F, et al. Among authors: bhatia kp. Ann Neurol. 2002 Oct;52(4):489-92. doi: 10.1002/ana.10325. Ann Neurol. 2002. PMID: 12325078

3

Slowly progressive cerebellar ataxia and cervical dystonia: clinical presentation of a new form of spinocerebellar ataxia?

Kuoppamäki M, Giunti P, Quinn N, Wood NW, Bhatia KP. Kuoppamäki M, et al. Among authors: bhatia kp. Mov Disord. 2003 Feb;18(2):200-6. doi: 10.1002/mds.10308. Mov Disord. 2003. PMID: 12539216 Review.

4

Parkin disease: a phenotypic study of a large case series.

Khan NL, Graham E, Critchley P, Schrag AE, Wood NW, Lees AJ, Bhatia KP, Quinn N. Khan NL, et al. Among authors: bhatia kp. Brain. 2003 Jun;126(Pt 6):1279-92. doi: 10.1093/brain/awg142. Brain. 2003. PMID: 12764051

5

Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature.

Edwards M, Wood N, Bhatia K. Edwards M, et al. Mov Disord. 2003 Jun;18(6):706-11. doi: 10.1002/mds.10411. Mov Disord. 2003. PMID: 12784278 Review.

6

Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation.

Edwards MJ, Huang YZ, Wood NW, Rothwell JC, Bhatia KP. Edwards MJ, et al. Among authors: bhatia kp. Brain. 2003 Sep;126(Pt 9):2074-80. doi: 10.1093/brain/awg209. Epub 2003 Jun 23. Brain. 2003. PMID: 12821514

7

Autosomal recessive, DYT2-like primary torsion dystonia: a new family.

Khan NL, Wood NW, Bhatia KP. Khan NL, et al. Among authors: bhatia kp. Neurology. 2003 Dec 23;61(12):1801-3. doi: 10.1212/01.wnl.0000099076.17187.9a. Neurology. 2003. PMID: 14694054

8

A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease.

Healy DG, Abou-Sleiman PM, Ozawa T, Lees AJ, Bhatia K, Ahmadi KR, Wullner U, Berciano J, Moller JC, Kamm C, Burk K, Barone P, Tolosa E, Quinn N, Goldstein DB, Wood NW. Healy DG, et al. Ann Neurol. 2004 Mar;55(3):443-6. doi: 10.1002/ana.20063. Ann Neurol. 2004. PMID: 14991826

9

The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism.

Healy DG, Abou-Sleiman PM, Ahmadi KR, Muqit MM, Bhatia KP, Quinn NP, Lees AJ, Latchmann DS, Goldstein DB, Wood NW. Healy DG, et al. Among authors: bhatia kp. Ann Neurol. 2004 Sep;56(3):329-35. doi: 10.1002/ana.20206. Ann Neurol. 2004. PMID: 15349859

10

Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene.

Mir P, Edwards MJ, Curtis AR, Bhatia KP, Quinn NP. Mir P, et al. Among authors: bhatia kp. Mov Disord. 2005 Feb;20(2):243-5. doi: 10.1002/mds.20280. Mov Disord. 2005. PMID: 15390032

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