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Results: 1 to 20 of 104

1.

Stiff Person syndrome and other anti-GAD-associated neurologic disorders.

Dayalu P, Teener JW.

Semin Neurol. 2012 Nov;32(5):544-9. doi: 10.1055/s-0033-1334477. Epub 2013 May 15. Review.

PMID:
23677666
[PubMed - indexed for MEDLINE]
2.

Defects in amino acid catabolism and the urea cycle.

Hoffmann GF, Kölker S.

Handb Clin Neurol. 2013;113:1755-73. doi: 10.1016/B978-0-444-59565-2.00046-0. Review.

PMID:
23622399
[PubMed - indexed for MEDLINE]
3.

Progressive myoclonus epilepsy.

Girard JM, Turnbull J, Ramachandran N, Minassian BA.

Handb Clin Neurol. 2013;113:1731-6. doi: 10.1016/B978-0-444-59565-2.00043-5. Review.

PMID:
23622396
[PubMed - indexed for MEDLINE]
4.

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF.

Brain. 2013 Apr;136(Pt 4):1146-54. doi: 10.1093/brain/awt021. Epub 2013 Feb 28.

PMID:
23449775
[PubMed - indexed for MEDLINE]
Free Article
5.

Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients.

Musova Z, Sedlacek Z, Mazanec R, Klempir J, Roth J, Plevova P, Vyhnalek M, Kopeckova M, Apltova L, Krepelova A, Zumrova A.

Cerebellum. 2013 Apr;12(2):155-61. doi: 10.1007/s12311-012-0403-5.

PMID:
22872568
[PubMed - indexed for MEDLINE]
6.

Flattened facial colliculus on magnetic resonance imaging in Machado-Joseph disease.

Ogawa Y, Ito S, Makino T, Kanai K, Arai K, Kuwabara S.

Mov Disord. 2012 Jul;27(8):1041-6. doi: 10.1002/mds.25060. Epub 2012 Jun 12.

PMID:
22693147
[PubMed - indexed for MEDLINE]
7.

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.

Blumkin L, Kivity S, Lev D, Cohen S, Shomrat R, Lerman-Sagie T, Leshinsky-Silver E.

J Neurol. 2012 Dec;259(12):2590-8. doi: 10.1007/s00415-012-6545-z. Epub 2012 May 26.

PMID:
22638565
[PubMed - indexed for MEDLINE]
8.

Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8.

Krysa W, Rajkiewicz M, Sułek A.

Neurol Neurochir Pol. 2012 Mar-Apr;46(2):113-20.

PMID:
22581592
[PubMed - indexed for MEDLINE]
9.

Presentation of an unusual patient with Lafora disease.

Gökdemir S, Cağlayan H, Kızıltan M, Karaağaç N, Leblebici C, Yeni SN.

Epileptic Disord. 2012 Mar;14(1):94-8. doi: 10.1684/epd.2012.0489.

PMID:
22425593
[PubMed - indexed for MEDLINE]
10.

Machado-Joseph disease and other rare spinocerebellar ataxias.

Matilla-Dueñas A.

Adv Exp Med Biol. 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. Review.

PMID:
22411243
[PubMed - indexed for MEDLINE]
11.

Cognitive dysfunction in mitochondrial disorders.

Finsterer J.

Acta Neurol Scand. 2012 Jul;126(1):1-11. doi: 10.1111/j.1600-0404.2012.01649.x. Epub 2012 Feb 15.

PMID:
22335339
[PubMed - indexed for MEDLINE]
12.

Is cerebral white matter involvement helpful in the diagnosis of dentatorubral-pallidoluysian atrophy?

Yoon WT, Youn J, Cho JW.

J Neurol. 2012 Aug;259(8):1694-7.

PMID:
22286658
[PubMed - indexed for MEDLINE]
13.

MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.

Emmanuele V, Silvers DS, Sotiriou E, Tanji K, DiMauro S, Hirano M.

Muscle Nerve. 2011 Sep;44(3):448-51. doi: 10.1002/mus.22149.

PMID:
21996807
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype.

Rodrigues GR, Walker RH, Bader B, Danek A, Brice A, Cazeneuve C, Russaouen O, Lopes-Cendes I, Marques Jr W, Tumas V.

Arq Neuropsiquiatr. 2011 Jun;69(3):419-23.

PMID:
21755114
[PubMed - indexed for MEDLINE]
Free Article
15.

Lafora disease: a case report, pathologic and genetic study.

Harirchian MH, Shandiz EE, Turnbull J, Minassian BA, Shahsiah R.

Indian J Pathol Microbiol. 2011 Apr-Jun;54(2):374-5. doi: 10.4103/0377-4929.81645.

PMID:
21623095
[PubMed - indexed for MEDLINE]
Free Article
16.

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF.

Am J Hum Genet. 2011 May 13;88(5):657-63. doi: 10.1016/j.ajhg.2011.04.011. Epub 2011 May 5.

PMID:
21549339
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Vanishing white matter disease associated with ptosis and myoclonic seizures.

Sharma S, Arya R, Raju KN, Kumar A, Scheper GC, van der Knaap MS, Gulati S.

J Child Neurol. 2011 Mar;26(3):366-8. doi: 10.1177/0883073810381529. Epub 2010 Nov 29.

PMID:
21115745
[PubMed - indexed for MEDLINE]
18.

Progressive myoclonic epilepsy.

Satishchandra P, Sinha S.

Neurol India. 2010 Jul-Aug;58(4):514-22. doi: 10.4103/0028-3886.68660. Review.

PMID:
20739785
[PubMed - indexed for MEDLINE]
Free Article
19.

Dentatorubropallidoluysian atrophy without involuntary movement or dementia--a case report.

Kasahata N, Iwasaki Y.

Clin Neurol Neurosurg. 2010 Oct;112(8):722-5. doi: 10.1016/j.clineuro.2010.04.023. Epub 2010 Jun 2.

PMID:
20627552
[PubMed - indexed for MEDLINE]
20.

Dentatorubral pallidoluysian atrophy in a Turkish family.

Yiş U, Dirik E, Gündoğdu-Eken A, Başak AN.

Turk J Pediatr. 2009 Nov-Dec;51(6):610-2.

PMID:
20196398
[PubMed - indexed for MEDLINE]
Free Article

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