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Movement Disorders (revue) - Curation (Ncbi)

Index « Keywords » - entrée « Genes, Recessive »
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Genes, Mitochondrial < Genes, Recessive < Genes, Recessive (genetics)  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 13.
Ident.Authors (with country if any)Title
000968 (2002) Francisco Grandas ; Mercedes Martín-Moro ; Susana Garcia-Mu Ozguren ; Fernando AnayaEarly-onset parkinsonism in cerebrotendinous xanthomatosis.
000F10 (2004) Giovanni Abbruzzese [Italie] ; Simona Pigullo ; Angelo Schenone ; Emilia Bellone ; Roberta Marchese ; Emilio Di Maria ; Luana Benedetti ; Paola Ciotti ; Lucilla Nobbio ; Vincenzo Bonifati ; Franco Ajmar ; Paola MandichDoes parkin play a role in the peripheral nervous system? A family report.
001049 (2005) Paolo Moretti [États-Unis] ; Peter Hedera ; John Wald ; John FinkAutosomal recessive primary generalized dystonia in two siblings from a consanguineous family.
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.
001482 (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.
001731 (2006) Antje Mueller [Allemagne] ; Ulrike Reuner ; Basile Landis ; Hagen Kitzler ; Heinz Reichmann ; Thomas HummelExtrapyramidal symptoms in Wilson's disease are associated with olfactory dysfunction.
001803 (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.
001B06 (2007) Yuhei Takado ; Kenju Hara ; Takayoshi Shimohata ; Susumu Tokiguchi ; Osamu Onodera ; Masatoyo NishizawaNew mutation in the non-gigantic exon of SACS in Japanese siblings.
001E60 (2007) Oronzo Scarciolla [Italie] ; Francesco Brancati ; Enza Maria Valente ; Alessandro Ferraris ; Maria Vittoria De Angelis ; Stefano Valbonesi ; Barbara Garavaglia ; Antonino Uncini ; Giandomenico Palka ; Liborio Stuppia ; Bruno DallapiccolaMultiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.
002437 (2009) Ming-Jen Lee [Taïwan] ; Ignacio F. Mata ; Chin-Hsien Lin ; Kai-Yuan Tzen ; Sarah J. Lincoln ; Rebecca Bounds ; Paul J. Lockhart ; Mary M. Hulihan ; Matthew J. Farrer ; Ruey-Meei WuGenotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism.
002710 (2009) Irene Martinez-Torres ; Patricia Limousin ; Steve Tisch ; Rupert Page ; Ashwin Pinto ; Thomas Foltynie ; Kailash P. Bhatia ; Marwan I. Hariz ; Ludvic ZrinzoEarly and marked benefit with GPi DBS for Lubag syndrome presenting with rapidly progressive life-threatening dystonia.
003553 (2012) Evelien Zoons ; Ieke B. Ginjaar ; Paul A D. Bouma ; Johannes A. Carpay ; Marina A J. TijssenA new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene.
004709 (1995) S. Bohlega [Arabie saoudite] ; B. Stigsby ; M Z Al-Kawi ; D R Mclean ; P. Ozand ; S. Omer ; P. CoatesFamilial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging.

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