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Items: 1 to 20 of 121

1.

Myoclonus and dystonia in cerebrotendinous xanthomatosis.

Lagarde J, Roze E, Apartis E, Pothalil D, Sedel F, Couvert P, Vidailhet M, Degos B.

Mov Disord. 2012 Dec;27(14):1805-10. doi: 10.1002/mds.25206. Epub 2012 Oct 31. Review.

PMID:
23115103
2.

Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia.

Foncke EM, Beukers RJ, Tijssen CC, Koelman JH, Tijssen MA.

Parkinsonism Relat Disord. 2010 May;16(4):288-9. doi: 10.1016/j.parkreldis.2009.10.008. Epub 2009 Nov 12.

PMID:
19913450
3.

Inherited myoclonus-dystonia and epilepsy: further evidence of an association?

O'Riordan S, Ozelius LJ, de Carvalho Aguiar P, Hutchinson M, King M, Lynch T.

Mov Disord. 2004 Dec;19(12):1456-9.

PMID:
15389977
4.

Alcohol-sensitive hereditary essential myoclonus with dystonia: a study of 6 Brazilian patients.

Borges V, Ferraz HB, de Andrade LA.

Neurol Sci. 2000 Dec;21(6):373-7.

PMID:
11441575
5.

Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion.

Quinn NP, Rothwell JC, Thompson PD, Marsden CD.

Adv Neurol. 1988;50:391-401. No abstract available.

PMID:
3400498
6.

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.

Saugier-Veber P, Doummar D, Barthez MA, Czernecki V, Drouot N, Apartis E, Bürglen L, Frebourg T, Roze E.

Am J Med Genet A. 2010 May;152A(5):1244-9. doi: 10.1002/ajmg.a.33369.

PMID:
20425829
7.

Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis.

Pedroso JL, Pinto WB, Souza PV, Santos LT, Abud IC, Avelino MA, Barsottini OG.

Epilepsy Behav. 2012 Jul;24(3):380-1. doi: 10.1016/j.yebeh.2012.04.121. Epub 2012 May 30.

PMID:
22658436
8.

Myoclonus-dystonia: an update.

Kinugawa K, Vidailhet M, Clot F, Apartis E, Grabli D, Roze E.

Mov Disord. 2009 Mar 15;24(4):479-89. doi: 10.1002/mds.22425. Review.

PMID:
19117361
9.

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.

Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, Schule B, Kock N, Friedman J, Harris J, Ford B, Frucht S, Heiman GA, Jennings D, Doheny D, Brin MF, de Leon Brin D, Multhaupt-Buell T, Lang AE, Kurlan R, Klein C, Ozelius L, Bressman S.

Mov Disord. 2008 Mar 15;23(4):588-92. doi: 10.1002/mds.21785.

PMID:
18175340
10.

Cerebrotendinous xanthomatosis revealed in drug-resistant epilepsy diagnostic workup.

Kauffman MA, Gonzalez-Morón D, Consalvo D, Kochen S.

Am J Med Sci. 2012 Apr;343(4):332-3. doi: 10.1097/MAJ.0b013e31823cf6d8.

PMID:
22197981
11.

Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis.

Verrips A, van Engelen BG, Wevers RA, van Geel BM, Cruysberg JR, van den Heuvel LP, Keyser A, Gabreëls FJ.

Arch Neurol. 2000 Apr;57(4):520-4. Review.

PMID:
10768627
12.

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.

Nie S, Chen G, Cao X, Zhang Y.

Orphanet J Rare Dis. 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. Review.

13.

Phenotypic features of myoclonus-dystonia in three kindreds.

Doheny DO, Brin MF, Morrison CE, Smith CJ, Walker RH, Abbasi S, Müller B, Garrels J, Liu L, De Carvalho Aguiar P, Schilling K, Kramer P, De Leon D, Raymond D, Saunders-Pullman R, Klein C, Bressman SB, Schmand B, Tijssen MA, Ozelius LJ, Silverman JM.

Neurology. 2002 Oct 22;59(8):1187-96.

PMID:
12391346
14.

[Myoclonic dystonia].

Cassim F.

Rev Neurol (Paris). 2003 Oct;159(10 Pt 1):892-9. Review. French.

PMID:
14615678
15.

"Jerky" dystonia in children: spectrum of phenotypes and genetic testing.

Asmus F, Langseth A, Doherty E, Nestor T, Munz M, Gasser T, Lynch T, King MD.

Mov Disord. 2009 Apr 15;24(5):702-9. doi: 10.1002/mds.22426.

PMID:
19117362
16.

A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.

Marelli C, Canafoglia L, Zibordi F, Ciano C, Visani E, Zorzi G, Garavaglia B, Barzaghi C, Albanese A, Soliveri P, Leone M, Panzica F, Scaioli V, Pincherle A, Nardocci N, Franceschetti S.

Mov Disord. 2008 Oct 30;23(14):2041-8. doi: 10.1002/mds.22256.

PMID:
18759336
17.

Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome?

Ganos C, Biskup S, Krüger S, Meyer-Osores A, Hodecker S, Hagel C, Schöls L, Bhatia KP, Münchau A.

Parkinsonism Relat Disord. 2014 Mar;20(3):328-31. doi: 10.1016/j.parkreldis.2013.11.011. Epub 2013 Nov 27.

PMID:
24359844
18.

Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.

Nardocci N, Zorzi G, Barzaghi C, Zibordi F, Ciano C, Ghezzi D, Garavaglia B.

Mov Disord. 2008 Jan;23(1):28-34.

PMID:
17853490
19.

Essential myoclonus and myoclonic dystonia.

Quinn NP.

Mov Disord. 1996 Mar;11(2):119-24. Review.

PMID:
8684380
20.

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.

Nygaard TG, Raymond D, Chen C, Nishino I, Greene PE, Jennings D, Heiman GA, Klein C, Saunders-Pullman RJ, Kramer P, Ozelius LJ, Bressman SB.

Ann Neurol. 1999 Nov;46(5):794-8.

PMID:
10554001

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