Spinocerebellar Ataxias (congenital) < Spinocerebellar Ataxias (diagnosis) < Spinocerebellar Ataxias (drug therapy)

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 37.
[0-20] [0 - 20][0 - 37][20-36][20-40]

Ident.	Authors (with country if any)	Title
000228 (2000)	B M Ross [Canada] ; K. Eder ; A. Moszczynska ; N. Mamalias ; J. Lamarche ; L. Ang ; M. Pandolfo ; G. Rouleau ; M. Kirchgessner ; S J Kish	Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1.
000296 (2000)	T. Klockgether [Allemagne] ; U. Wüllner ; A. Spauschus ; B. Evert	The molecular biology of the autosomal-dominant cerebellar ataxias.
000518 (2001)	K. Bürk [Allemagne] ; M. Skalej ; J. Dichgans	Pontine MRI hyperintensities ("the cross sign") are not pathognomonic for multiple system atrophy (MSA).
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.
000A03 (2003)	Mikko Kuoppam Ki [Royaume-Uni] ; Paula Giunti ; Niall Quinn ; Nicholas W. Wood ; Kailash P. Bhatia	Slowly progressive cerebellar ataxia and cervical dystonia: clinical presentation of a new form of spinocerebellar ataxia?
000D31 (2004)	Elsdon Storey [Australie] ; Kate Tuck ; Robert Hester ; Andrew Hughes ; Andrew Churchyard	Inter-rater reliability of the International Cooperative Ataxia Rating Scale (ICARS).
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.
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.
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).
001370 (2005)	Niall P. Quinn [Royaume-Uni]	How to diagnose multiple system atrophy.
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.
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.
001433 (2006)	Christian Brenneis [Autriche] ; Sylvia M. Boesch ; Karl E. Egger ; Klaus Seppi ; Christoph Scherfler ; Michael Schocke ; Gregor K. Wenning ; Werner Poewe [Autriche]	Cortical atrophy in the cerebellar variant of multiple system atrophy: a voxel-based morphometry study.
001559 (2006)	Tanja Schmitz-Hübsch [Allemagne] ; Sophie Tezenas Du Montcel ; Laszlo Baliko ; Sylvia Boesch ; Sara Bonato ; Roberto Fancellu ; Paola Giunti ; Christoph Globas ; Jun-Suk Kang ; Berry Kremer ; Caterina Mariotti ; Bela Melegh ; Maryla Rakowicz ; Rafal Rola ; Sylvie Romano ; Lodger Schöls ; Sandra Szymanski ; Bart P C. Van De Warrenburg ; Elzbieta Zdzienicka ; Alexandra Dürr ; Thomas Klockgether	Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients.
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.
001800 (2006)	José Berciano [Espagne] ; Sylvia Boesch ; José M. Pérez-Ramos ; Gregor K. Wenning	Olivopontocerebellar atrophy: toward a better nosological definition.

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