Movement Disorders (revue) - Checkpoint (Ncbi)

Index « Mesh.i » - entrée « Chromosome Aberrations »
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Chromogranin A < Chromosome Aberrations < Chromosome Deletion  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 62.
[0-20] [0 - 20][0 - 50][20-40]
Ident.Authors (with country if any)Title
000115 (1999) H R Morris [Royaume-Uni] ; A J Lees ; N W WoodNeurofibrillary tangle parkinsonian disorders--tau pathology and tau genetics.
000126 (1999) E. Cassetta [Italie] ; N. Del Grosso ; A R Bentivoglio ; E M Valente ; M. Frontali ; A. AlbaneseItalian family with cranial cervical dystonia: clinical and genetic study.
000226 (2000) A. Schrag [Royaume-Uni] ; N P Quinn ; K P Bhatia ; C D MarsdenBenign hereditary chorea--entity or syndrome?
000285 (2000) J J Higgins [États-Unis] ; K. Kluetzman ; J. Berciano ; O. Combarros ; J M LovelessPosterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder.
000296 (2000) T. Klockgether [Allemagne] ; U. Wüllner ; A. Spauschus ; B. EvertThe molecular biology of the autosomal-dominant cerebellar ataxias.
000551 (2001) T. Perniola [Italie] ; L. Margari ; M G De Iaco ; A. Presicci ; P. Ventura ; E. Ferrannini ; G. IllicetoFamilial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance.
000679 (2002) Virgilio Gerald H. Evidente [États-Unis] ; Katrina Gwinn-Hardy ; John Hardy ; Dena Hernandez ; Andrew SingletonX-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype?
000736 (2002) Francesco Brancati [Italie] ; Giovanni Defazio ; Viviana Caputo ; Enza Maria Valente ; Antonio Pizzuti ; Paolo Livrea ; Alfredo Berardelli ; Bruno DallapiccolaNovel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.
000831 (2002) Sian D. Spacey [Royaume-Uni] ; Enza-Maria Valente ; Gurusidheshwar M. Wali ; Thomas T. Warner ; Paul R. Jarman ; Anthony H V. Schapira ; Peter H. Dixon ; Mary B. Davis ; Kailash P. Bhatia ; Nicholas W. WoodGenetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.
000930 (2002) David A. Grimes [Canada] ; J David Grimes ; Lem Racacho ; Kylie A. Scoggan ; Fabin Han ; Betty Anne Schwarz ; John Woulfe ; Dennise BulmanLarge French-Canadian family with Lewy body parkinsonism: exclusion of known loci.
000968 (2002) Francisco Grandas ; Mercedes Martín-Moro ; Susana Garcia-Mu Ozguren ; Fernando AnayaEarly-onset parkinsonism in cerebrotendinous xanthomatosis.
000A37 (2003) Saeed Bohlega [Arabie saoudite] ; Adel Al-Jishi ; Carol Dobson-Stone ; Luca Rampoldi ; Parthasarathi Saha ; Hatem Murad ; Abid Kareem ; George Roberts ; Anthony P. MonacoChorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.
000D24 (2004) Dominic C. Paviour [Royaume-Uni] ; Robert A H. Surtees ; Andrew J. LeesDiagnostic considerations in juvenile parkinsonism.
000D34 (2004) Anna Rita Bentivoglio [Italie] ; Tamara Ialongo ; M Fiorella Contarino ; Enza M. Valente ; Alberto AlbanesePhenotypic characterization of DYT13 primary torsion dystonia.
000D37 (2004) Johann M. Hagenah [Allemagne] ; Christine Zühlke ; Yorck Hellenbroich ; Wolfgang Heide ; Christine KleinFocal dystonia as a presenting sign of spinocerebellar ataxia 17.
000D42 (2004) Norman Kock [Allemagne] ; Meike Kasten ; Birgitt Schüle ; Katja Hedrich ; Karin Wiegers ; Kemal Kabakci ; Johann Hagenah ; Peter P. Pramstaller ; Matthias F. Nitschke ; Alexander Münchau ; Jürgen Sperner ; Christine KleinClinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation.
001416 (2006) Juliane Winkelmann [Allemagne] ; Peter Lichtner ; Benno Pütz ; Claudia Trenkwalder ; Stephanie Hauk ; Thomas Meitinger ; Tim Strom ; Bertram Muller-MyhsokEvidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.
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. KostiFrequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients.
001445 (2006) Susanna Adel [Allemagne] ; Ana Djarmati ; Kemal Kabakci ; Irene Pichler ; Cordula Eskelson ; Thora Lohnau ; Norman Kock ; Johann Hagenah ; Katja Hedrich ; Eberhard Schwinger ; Patricia L. Kramer ; Peter P. Pramstaller ; Christine KleinCo-occurrence of restless legs syndrome and Parkin mutations in two families.
001452 (1992) R N RosenbergMachado-Joseph disease: an autosomal dominant motor system degeneration.
001453 (1992) L. Sudarsky [États-Unis] ; L. Corwin ; D M DawsonMachado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies.

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