Spinocerebellar Ataxias (ethnology) < Spinocerebellar Ataxias (genetics) < Spinocerebellar Ataxias (metabolism)

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 48.
[0-20] [0 - 20][0 - 48][20-40]

Ident.	Authors (with country if any)	Title
000296 (2000)	T. Klockgether [Allemagne] ; U. Wüllner ; A. Spauschus ; B. Evert	The molecular biology of the autosomal-dominant cerebellar ataxias.
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.
000907 (2002)	Chin-Song Lu [Taïwan] ; Yah-Huei Wu Chou ; Tzu-Chen Yen ; Chon-Haw Tsai ; Rou-Shayn Chen ; Hsiu-Chen Chang	Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2.
000C08 (2003)	Takao Hashimoto [Japon] ; Osamu Sasaki ; Kunihiro Yoshida ; Yo-Ichi Takei ; Shu-Ichi Ikeda	Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6.
000D37 (2004)	Johann M. Hagenah [Allemagne] ; Christine Zühlke ; Yorck Hellenbroich ; Wolfgang Heide ; Christine Klein	Focal dystonia as a presenting sign of spinocerebellar ataxia 17.
000E23 (2004)	Yih-Ru Wu [Taïwan] ; Guey-Jen Lee-Chen ; Anthony E. Lang ; Chiung-Mei Chen ; Hsuan-Yuan Lin ; Sien-Tsong Chen	Dystonia as a presenting sign of spinocerebellar ataxia type 1.
000E26 (2004)	Alastair Wilkins [Royaume-Uni] ; Jerry M. Brown ; Roger A. Barker	SCA2 presenting as levodopa-responsive parkinsonism in a young patient from the United Kingdom: a case report.
000E36 (2004)	Sarah Furtado [Canada] ; Haydeh Payami ; Paul J. Lockhart ; Melissa Hanson ; John G. Nutt ; Andrew A. Singleton ; Amanda Singleton ; Jamel Bower ; Ryan J. Utti ; Thomas D. Bird ; Raul De La Fuente-Fernandez ; Yoshio Tsuboi ; Mary L. Klimek ; Oksana Suchowersky ; John Hardy ; Donald B. Calne ; Zbigniew K. Wszolek ; Matthew Farrer ; Katrina Gwinn-Hardy ; A Jon Stoessl	Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).
000E84 (2004)	Jon Infante [Espagne] ; José Berciano ; Victor Volpini ; Jordi Corral ; José Miguel Polo ; Julio Pascual ; Onofre Combarros	Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease.
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.
001289 (2005)	Naheed L. Khan [Royaume-Uni] ; Paola Giunti ; Mary G. Sweeney ; Christoph Scherfler ; Michael O. Brien ; Paola Piccini ; Nicholas W. Wood ; Andrew J. Lees	Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).
001350 (2005)	Clement T. Loy [Royaume-Uni] ; Mary G. Sweeney ; Mary B. Davis ; Adrian J. Wills ; Guy V. Sawle ; Andrew J. Lees ; Sarah J. Tabrizi	Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.
001351 (2005)	Matthias Maschke [Allemagne] ; Gary Oehlert ; Ting-Dong Xie ; Susan Perlman ; Sub H. Subramony ; Neeraj Kumar ; Louis J. Ptacek ; Christopher M. Gomez	Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes.
001396 (2006)	Alberto L. Rosa [Argentine] ; Irma Molina ; Valeria Kowaljow ; Cecilia B. Conde	Brisk deep-tendon reflexes as a distinctive phenotype in an Argentinean spinocerebellar ataxia type 2 pedigree.
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.
001431 (2006)	Natasa T. Dragasevi ; Biljana Culjkovi ; Christine Klein ; Aleksandar Risti ; Milica Keckarevi ; Ivan Topisirovi ; Slobodanka Vukosavi ; Marina Svetel ; Norman Kock ; Elka Stefanova ; Stanka Romac ; Vladimir S. Kosti	Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients.
001590 (2006)	Elena Salvatore [Italie] ; Andrea Varrone ; Valeria Sansone ; Maria Nolano ; Amalia C. Bruni ; Anna De Rosa ; Lucio Santoro ; Sabina Pappatà ; Alessandro Filla ; Giuseppe De Michele	Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.
001609 (2006)	Monique H M. Vlak [Pays-Bas] ; Richard J. Sinke ; Gwenda M. Rabelink ; Berry P H. Kremer ; Bart P C. Van De Warrenburg	Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.
001649 (2006)	Marcondes C. França [Brésil] ; Maria E. Calcagnotto ; Jaderson C. Da Costa ; Iscia Lopes-Cendes	Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family.
001736 (2006)	Keiko Hiramoto [Japon] ; Hideshi Kawakami ; Kimiko Inoue ; Takahiro Seki ; Hirofumi Maruyama ; Hiroyuki Morino ; Masayasu Matsumoto ; Kaoru Kurisu ; Norio Sakai	Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
001772 (2006)	Sylvia M. Boesch [Autriche] ; Birgit Frauscher ; Elisabeth Brandauer ; Gregor K. Wenning ; Birgit Högl ; Werner Poewe [Autriche]	Disturbance of rapid eye movement sleep in spinocerebellar ataxia type 2.

---

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/KwdEn.i -k "Spinocerebellar Ataxias (genetics)" 

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/KwdEn.i  \
                -Sk "Spinocerebellar Ataxias (genetics)" \
         | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd 

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Ncbi
   |étape=   Curation
   |type=    indexItem
   |index=    KwdEn.i
   |clé=    Spinocerebellar Ataxias (genetics)
}}

---

This area was generated with Dilib version V0.6.23. Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024