Movement Disorders (revue) - Checkpoint (PubMed)

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
002066 (2008) Sonja Scholz [États-Unis] ; Andrew SingletonSusceptibility genes in movement disorders.
002124 (2008) Christian Wider [États-Unis] ; Ryan J. Uitti ; Zbigniew K. Wszolek ; John Y. Fang ; Keith A. Josephs ; Matthew C. Baker ; Rosa Rademakers ; Michael L. Hutton ; Dennis W. DicksonProgranulin gene mutation with an unusual clinical and neuropathologic presentation.
002388 (2008) Hiltrud Muhle [Allemagne] ; Anja Neumann ; Katja Lohmann-Hedrich ; Thora Lohnau ; Yang Lu ; Susen Winkler ; Stephan Waltz ; Anke Fischenbeck ; Patricia L. Kramer ; Christine Klein ; Ulrich StephaniChildhood-onset restless legs syndrome: clinical and genetic features of 22 families.
002514 (2007) Anelyssa D'Abreu [Brésil] ; Marcondes Franca ; Iscia Lopes-Cendes ; Fernando CendesThe international cooperative ataxia rating scale in Machado-Joseph disease. Comparison with the unified multiple system atrophy rating scale.
002522 (2007) Claudia Cagnoli ; Alessandro Brussino ; Eleonora Di Gregorio ; Alfredo Brusco ; Giovanni Stevanin ; Alexandra Durr ; Alexis BriceThe (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.
002689 (2007) Yuhei Takado ; Kenju Hara ; Takayoshi Shimohata ; Susumu Tokiguchi ; Osamu Onodera ; Masatoyo NishizawaNew mutation in the non-gigantic exon of SACS in Japanese siblings.
002A23 (2006) Graznya Gromadzka [Pologne] ; Harmut H J. Schmidt ; Janine Genschel ; Bettina Bochow ; M. Rodo ; Beatek Tarnacka ; Thomas Litwin ; Grzegorz Chabik ; Anna Członkowskap.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
002B63 (2006) Daniela Perani ; Valentina Garibotto ; George M. Hadjigeorgiou ; Dimitra Papadimitriou ; Ferruccio Fazio ; Alexandros PapadimitriouPositron emission tomography changes in PARK1 mutation.
002C25 (2006) Peter Bauer [Allemagne] ; Friedmar R. Kreuz ; Katrin Bürk ; Carsten Saft ; Jürgen Andrich ; Hubert Heilemann ; Olaf Riess ; Ludger SchölsMutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause.
002D05 (2006) Karsten Henkel [Allemagne] ; Adrian Danek ; Jordan Grafman ; John Butman ; Jan KassubekHead of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study.
002D21 (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.
002D24 (2006) Shaochun Ma [États-Unis] ; Thomas L. Davis ; Marcia A. Blair ; John Y. Fang ; Yuki Bradford ; Jonathan L. Haines ; Peter HederaFamilial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?
002D28 (2006) Antje Mueller [Allemagne] ; Ulrike Reuner ; Basile Landis ; Hagen Kitzler ; Heinz Reichmann ; Thomas HummelExtrapyramidal symptoms in Wilson's disease are associated with olfactory dysfunction.
002D34 (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.
002D72 (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.
002E14 (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.
002E19 (2006) Renato P. Munhoz [Brésil] ; Toshitaka Kawarai ; Helio A. Teive ; Salmo Raskin ; Christine Sato ; Yan Liang ; Peter H. St George-Hyslop ; Ekaterina RogaevaClinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).
003368 (2004) Anna Rita Bentivoglio [Italie] ; Tamara Ialongo ; M Fiorella Contarino ; Enza M. Valente ; Alberto AlbanesePhenotypic characterization of DYT13 primary torsion dystonia.
003458 (2004) Johann M. Hagenah [Allemagne] ; Christine Zühlke ; Yorck Hellenbroich ; Wolfgang Heide ; Christine KleinFocal dystonia as a presenting sign of spinocerebellar ataxia 17.
003493 (2004) Dominic C. Paviour [Royaume-Uni] ; Robert A H. Surtees ; Andrew J. LeesDiagnostic considerations in juvenile parkinsonism.
003522 (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.

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