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Movement Disorders (revue) - Curation (Ncbi)

Index « Keywords » - entrée « Sequence Deletion »
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Sequence Analysis, DNA (methods) < Sequence Deletion < Sequence Deletion (genetics)  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 10.
Ident.Authors (with country if any)Title
000398 (2000) C. Kamm [Allemagne] ; M. Naumann ; J. Mueller ; N. Mai ; L. Riedel ; J. Wissel ; T. GasserThe DYT1 GAG deletion is infrequent in sporadic and familial writer' s cramp.
000804 (2002) Danqing Zhu [Australie] ; Christopher Burke ; Anthony Leslie ; Garth A. NicholsonFriedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.
001B02 (2007) Mélissa Frédéric [France] ; Estelle Lucarz ; Christine Monino ; Céline Saquet ; Delphine Thorel ; Mireille Claustres ; Sylvie Tuffery-Giraud ; Gwenaelle Collod-BéroudFirst determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.
001B81 (2007) Marcelo Miranda [Chili] ; Claudia Castiglioni ; Beat M. Frey ; Martin Hergersberg ; Adrian Danek ; Hans H. JungPhenotypic variability of a distinct deletion in McLeod syndrome.
001F85 (2008) Fabin Han [Canada] ; Lemuel Racacho ; Howard Yang ; Tara Read ; Oksana Suchowersky ; Anthony E. Lang ; David A. Grimes ; Dennis E. BulmanLarge deletions account for an increasing number of mutations in SGCE.
002152 (2008) Teresa Temudo [Portugal] ; Elisabete Ramos ; Karin Dias ; Clara Barbot ; Jose P. Vieira ; Ana Moreira ; Eulalia Calado ; Ines Carrilho ; Guiomar Oliveira ; Antonio Levy ; Maria Fonseca ; Alexandra Cabral ; Pedro Cabral ; Joao P. Monteiro ; Luis Borges ; Roseli Gomes ; Manuela Santos ; Jorge Sequeiros ; Patricia MacielMovement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type.
002365 (2009) Kathrin Reetz [Allemagne] ; Christian Gaser ; Christine Klein ; Johannes Hagenah ; Christian Büchel ; Stefan Gottschalk ; Peter P. Pramstaller ; Hartwig R. Siebner ; Ferdinand BinkofskiStructural findings in the basal ganglia in genetically determined and idiopathic Parkinson's disease.
002419 (2009) Marianna Amboni ; Maria Teresa Pellecchia ; Autilia Cozzolino ; Marina Picillo ; Carmine Vitale ; Paolo Barone ; Andrea Varrone ; Barbara Garavaglia ; Simona Gambelli ; Antonio FedericoCerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2.
002E61 (2011) Marek Bodzioch [Pologne] ; Katarzyna Lapicka-Bodzioch ; Monika Rudzinska ; Jacek J. Pietrzyk ; Miroslaw Bik-Multanowski ; Andrzej SzczudlikSevere dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter.
002E91 (2010) Patricia De Carvalho Aguiar [Brésil] ; Tania Fuchs ; Vanderci Borges ; Kay-Marie Lamar ; Sonia Maria Azevedo Silva ; Henrique Ballalai Ferraz ; Laurie OzeliusScreening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.

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