Trinucleotide Repeat Expansion < Trinucleotide Repeats < Trismus

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 63.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000491 (2001)	J. Müller [Autriche] ; G K Wenning ; J. Wissel ; Werner Poewe [Autriche]	Intrafamilial heterogeneity of facial hyperkinesias: chance association of tics, cranial dystonia, and Huntington's disease?
000517 (2001)	S. Bohlega [Arabie saoudite] ; A. Al-Tahan ; M. Kambouris ; M. Divakaran	Neurodegenerative Huntington-like disorder.
000725 (2002)	Eric K. Richfield [États-Unis] ; Jean-Paul Vonsattel ; Marcy E. Macdonald ; Zhiqiang Sun ; Yun-Ping P. Deng ; Anton Reiner	Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease.
000727 (2002)	Puneet Opal [États-Unis] ; Ron Tintner ; Joseph Jankovic [États-Unis] ; Joanne Leung ; Xandra O. Breakefield ; Jennifer Friedman ; Laurie Ozelius	Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm.
000835 (2002)	Johannes Schiefer [Allemagne] ; G Bernhard Landwehrmeyer ; Hans-Gerd Lüesse ; Arne Sprünken ; Christiane Puls ; Anna Milkereit ; Eva Milkereit ; Christoph M. Kosinski	Riluzole prolongs survival time and alters nuclear inclusion formation in a transgenic mouse model of Huntington's disease.
000855 (2002)	Giuseppe Nicoletti [Italie] ; Grazia Annesi ; Sara Carrideo ; Carmine Tomaino ; Alfonso Di Costanzo ; Mario Zappia ; Aldo Quattrone	Familial essential tremor is not associated with SCA-12 mutation in southern Italy.
000911 (2002)	S H Subramony [États-Unis] ; Dena Hernandez ; Amanda Adam ; Stephanie Smith-Jefferson ; Jennifer Hussey ; Katrina Gwinn-Hardy ; Timothy Lynch ; Olga Mcdaniel ; John Hardy ; Matt Farrer ; Andrew Singleton	Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.
000A41 (2003)	Haydeh Payami [États-Unis] ; John Nutt ; Steven Gancher ; Thomas Bird ; Melissa Gonzales Mcneal ; William K. Seltzer ; Jennifer Hussey ; Paul Lockhart ; Katrina Gwinn-Hardy ; Amanda A. Singleton ; Andrew B. Singleton ; John Hardy ; Matthew Farrer	SCA2 may present as levodopa-responsive parkinsonism.
000B68 (2003)	Ruth H. Walker [États-Unis] ; Paul F. Good ; P. Shashidharan	TorsinA immunoreactivity in inclusion bodies in trinucleotide repeat diseases.
000C97 (2004)	Susan Hollán [Hongrie] ; Lászl Vécsei ; Kálmán Magyar	Adverse effects of dopamine potentiation by long-term treatment with selegiline.
000E21 (2004)	Renato P. Munhoz [Canada] ; Catherine Bergeron ; Anthony E. Lang	Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions.
000E57 (2004)	Laura Cif [France] ; Enza Maria Valente ; Simone Hemm ; Christine Coubes ; Nathalie Vayssiere ; Stéphanie Serrat ; Annalisa Di Giorgio ; Philippe Coubes	Deep brain stimulation in myoclonus-dystonia syndrome.
000F51 (2004)	Din-E Shan [République populaire de Chine] ; Ren-Shyan Liu ; Chen-Ming Sun ; Shwn-Jen Lee ; Kwong-Kum Liao ; Bing-Wen Soong	Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: clinical implications.
001054 (2005)	Mathias Toft [États-Unis] ; Jan Aasly ; Gina Bisceglio ; Charles H. Adler ; Ryan J. Uitti ; Anna Krygowska-Wajs ; Timothy Lynch ; Zbigniew K. Wszolek ; Matthew J. Farrer	Parkinsonism, FXTAS, and FMR1 premutations.
001123 (2005)	Anjum Misbahuddin [Royaume-Uni] ; Mark R. Placzek ; Jan-Willem Taanman ; Steve Gschmeissner ; Giampietro Schiavo ; J Mark Cooper ; Thomas T. Warner	Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells.
001170 (2005)	Claire-Marie Dhaenens [France] ; Pierre Krystkowiak ; Xavier Douay ; Pierre Charpentier ; Sylvain Bele ; Alain Destée [France] ; Bernard Sablonnière	Clinical and genetic evaluation in a French population presenting with primary focal dystonia.
001185 (2005)	David R. Lynch [États-Unis] ; Jennifer M. Farmer ; Robert L. Wilson ; Laura J. Balcer	Performance measures in Friedreich ataxia: potential utility as clinical outcome tools.
001271 (2005)	Katja Hedrich [Allemagne] ; Peter P. Pramstaller ; Katrin Stübke ; Anja Hiller ; Kemal Kabakci ; Sabine Purmann ; Meike Kasten ; Cesa Scaglione ; Eberhard Schwinger ; Jens Volkmann ; Vladimir Kostic ; Peter Vieregge ; Paolo Martinelli ; Giovanni Abbruzzese ; Christine Klein ; Christine Zühlke	Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
001303 (2005)	Akio Ikeda ; Saiko Kurihara ; Hiroshi Shibasaki	Possible anticipation in BAFME: three generations examined in a Japanese family.
001418 (2006)	Nils Peters [Allemagne] ; Christoph Kamm ; Friedrich Asmus ; Elke Holinski-Feder ; Eduard Kraft ; Martin Dichgans ; Roland Brüning ; Thomas Gasser ; Kai Bötzel	Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.
001429 (2006)	Anna De Rosa [Italie] ; Pasquale Striano ; Fabrizio Barbieri ; Arturo De Falco ; Carlo Rinaldi ; Tecla Tucci ; Salvatore Striano ; Alessandro Filla ; Giuseppe De Michele	Suppression of myoclonus in SCA2 by piracetam.

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