Sandhoff Disease < Sarcoglycans < Sarcoidosis

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List of bibliographic references

Number of relevant bibliographic references: 29.
[0-20] [0 - 20][0 - 29][20-28][20-40]

Ident.	Authors (with country if any)	Title
000903 (2013)	Miryam Carecchio [Royaume-Uni] ; Monia Magliozzi ; Massimiliano Copetti ; Alessandro Ferraris ; Laura Bernardini ; Monica Bonetti ; Giovanni Defazio ; Mark J. Edwards ; Isabella Torrente ; Fabio Pellegrini ; Cristoforo Comi ; Kailash P. Bhatia ; Enza Maria Valente	Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
001107 (2011)	Kathryn J. Peall [Royaume-Uni] ; Adrian J. Waite ; Derek J. Blake ; Mike J. Owen ; Huw R. Morris	Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.
001371 (2011)	Russell C. Dale ; Julian J. Nasti ; Greg B. Peters	Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis.
001416 (2011)	Justus Groen [Pays-Bas] ; Anne-Fleur Van Rootselaar ; Sandra M A. Van Der Salm ; Bastiaan R. Bloem ; Marina Tijssen	A new familial syndrome with dystonia and lower limb action myoclonus.
001894 (2010)	Sui H. Wong ; Malcolm J. Steiger ; Andrew J. Larner ; Nicholas A. Fletcher	Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity.
001C94 (2009)	Katja Ritz [Pays-Bas] ; Justus L. Groen ; Jose J M. Kruisdijk ; Frank Baas ; Johannes H T M. Koelman ; Marina A J. Tijssen	Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp.
001E77 (2009)	Marta San Luciano [États-Unis] ; Laurie Ozelius ; Katherine Sims ; Deborah Raymond ; Liu Liu ; Rachel Saunders-Pullman	Responsiveness to levodopa in epsilon-sarcoglycan deletions.
001E85 (2009)	Friedrich Asmus [Allemagne] ; Annette Langseth ; Elaine Doherty ; Therese Nestor ; Marita Munz ; Thomas Gasser ; Tim Lynch ; Mary D. King	"Jerky" dystonia in children: spectrum of phenotypes and genetic testing.
001E86 (2009)	Kiyoka Kinugawa [France] ; Marie Vidailhet ; Fabienne Clot ; Emmanuelle Apartis ; David Grabli ; Emmanuel Roze	Myoclonus-dystonia: an update.
002000 (2008)	Maria Fiorella Contarino [Pays-Bas] ; Elles Berger-Plantinga ; Elisabeth M J. Foncke ; Katja Ritz ; Jonke Mellema ; Frank Baas ; Johannes D. Speelman ; Marina A J. Tijssen	Clinical and genetic characterization of a large Dutch family with primary focal dystonia.
002083 (2008)	Jie-Yuan Li [Canada] ; Danny I. Cunic ; Guillermo Paradiso ; Carolyn Gunraj ; Pramod K. Pal ; Anthony E. Lang ; Robert Chen	Electrophysiological features of myoclonus-dystonia.
002088 (2008)	Cecilia Marelli [Italie] ; Laura Canafoglia ; Federica Zibordi ; Claudia Ciano ; Elisa Visani ; Giovanna Zorzi ; Barbara Garavaglia ; Chiara Barzaghi ; Alberto Albanese ; Paola Soliveri ; Massimo Leone ; Ferruccio Panzica ; Vidmer Scaioli ; Alessandro Pincherle ; Nardo Nardocci ; Silvana Franceschetti	A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.
002114 (2008)	Vasiliki Koukouni [Royaume-Uni] ; Enza Maria Valente ; Carla Cordivari ; Kailash P. Bhatia ; Niall P. Quinn	Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.
002172 (2008)	Xue-Ping Chen [République populaire de Chine] ; Yang-Wei Zhang ; Shu-Shan Zhang ; Qin Chen ; Jean-Marc Burgunder ; Shu-Hui Wu ; Yuan Yang ; Zu-Ming Luo ; Hui-Fang Shang	A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome.
002315 (2008)	Emmanuel Roze ; Emmanuelle Apartis ; Jean-Marc Trocello	Cortical excitability in DYT-11 positive myoclonus dystonia.
002361 (2008)	Deborah Raymond [États-Unis] ; Rachel Saunders-Pullman ; Patricia De Carvalho Aguiar ; Birgitt Schule ; Norman Kock ; Jennifer Friedman ; Juliette Harris ; Blair Ford ; Steven Frucht ; Gary A. Heiman ; Danna Jennings ; Dana Doheny ; Mitchell F. Brin ; Deborah De Leon Brin ; Trisha Multhaupt-Buell ; Anthony E. Lang ; Roger Kurlan ; Christine Klein ; Laurie Ozelius ; Susan Bressman	Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
002374 (2008)	Fabin Han [Canada] ; Lemuel Racacho ; Howard Yang ; Tara Read ; Oksana Suchowersky ; Anthony E. Lang ; David A. Grimes ; Dennis E. Bulman	Large deletions account for an increasing number of mutations in SGCE.
002525 (2008)	Nardo Nardocci [Italie] ; Giovanna Zorzi ; Chiara Barzaghi ; Federica Zibordi ; Claudia Ciano ; Daniele Ghezzi ; Barbara Garavaglia	Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
002560 (2007)	Friedrich Asmus [Allemagne] ; Anita Devlin ; Marita Munz ; Alexander Zimprich ; Thomas Gasser ; Patrick F. Chinnery	Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
002561 (2007)	Michael Orth [Allemagne] ; Ana Djarmati ; Tobias B Umer ; Susan Winkler ; Anne Grünewald ; Katja Lohmann-Hedrich ; Kemal Kabakci ; Johann Hagenah ; Christine Klein ; Alexander Münchau	Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.
002738 (2007)	Stéphane Thobois ; Hélène Gervais-Bernard ; Jing Xie-Brustolin ; Julie Zyss ; Karine Ostrowsky ; Emmanuel Broussolle	Evidence for progressive changes in clinical presentation of myoclonus-dystonia.

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