Movement Disorders (revue) - Curation (Ncbi)

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Carrier Proteins (drug effects) < Carrier Proteins (genetics) < Carrier Proteins (immunology)  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 28.
[0-20] [0 - 20][0 - 28][20-27][20-40]
Ident.Authors (with country if any)Title
000091 (1999) C. Kamm [Allemagne] ; E. Castelon-Konkiewitz ; M. Naumann ; F. Heinen ; M. Brack ; A. Nebe ; A. Ceballos-Baumann ; T. GasserGAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.
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.
000585 (2001) A. Danek [Allemagne] ; F. Tison ; J. Rubio ; M. Oechsner ; W. Kalckreuth ; A P MonacoThe chorea of McLeod syndrome.
000677 (2002) Patrick F. Chinnery [Royaume-Uni] ; Paul J. Reading ; Emma L. Mccarthy ; Ann Curtis ; David J. BurnLate-onset axial jerky dystonia due to the DYT1 deletion.
000727 (2002) Puneet Opal [États-Unis] ; Ron Tintner ; Joseph Jankovic [États-Unis] ; Joanne Leung ; Xandra O. Breakefield ; Jennifer Friedman ; Laurie OzeliusIntrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm.
000740 (2002) Giovanna Zorzi [Italie] ; Barbara Garavaglia ; Federica Invernizzi ; Floriano Girotti ; Paola Soliveri ; Massimo Zeviani ; Lucia Angelini ; Nardo NardocciFrequency of DYT1 mutation in early onset primary dystonia in Italian patients.
000813 (2002) Lucia Angelini [Italie] ; Anna Erba ; Caterina Mariotti ; Cinzia Gellera ; Claudia Ciano ; Nardo NardocciMyoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.
000909 (2002) Anna Rita Bentivoglio [Italie] ; Mario Loi ; Enza M. Valente ; Tamara Ialongo ; Pietro Tonali ; Alberto AlbanesePhenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia?
000A24 (2003) Marco Onofrj [Italie] ; Anna Lisa Luciano ; Diego Iacono ; Astrid Thomas ; Fabrizio Stocchi ; Franco Papola ; Domenico Adorno ; Rocco Di MascioHLA typing does not predict REM sleep behaviour disorder and hallucinations in Parkinson's disease.
000B90 (2003) Ruth H. Walker [États-Unis] ; P. ShashidharanDevelopments in the molecular biology of DYT1 dystonia.
000C17 (2003) Demetrius M. Maraganore [États-Unis] ; Matthew J. Farrer ; Timothy G. Lesnick ; Mariza De Andrade ; James H. Bower ; Dena Hernandez ; John A. Hardy ; Walter A. RoccaCase-control study of the alpha-synuclein interacting protein gene and Parkinson's disease.
000C52 (2003) Carla Battisti [Italie] ; Patrizla Tarugi ; Maria Teresa Dotti ; Nicola De Stefano ; Angelo Vattimo ; Francesea Chierichetti ; Sebastiano Calandra ; Antonio FedericoAdult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study.
000C88 (2004) Ying-Zu Huang [Royaume-Uni] ; Mark J. Edwards ; Kailash P. Bhatia ; John C. RothwellOne-Hz repetitive transcranial magnetic stimulation of the premotor cortex alters reciprocal inhibition in DYT1 dystonia.
001170 (2005) Claire-Marie Dhaenens [France] ; Pierre Krystkowiak ; Xavier Douay ; Pierre Charpentier ; Sylvain Bele ; Alain Destée [France] ; Bernard SablonnièreClinical and genetic evaluation in a French population presenting with primary focal dystonia.
001902 (2006) Clécio Godeiro-Júnior ; Riguel Jun Inaoka ; Marcelo Rocha Barbosa ; Maria Regina Regis Silva ; Patrícia De Carvalho Aguiar ; Orlando BarsottiniMutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.
001993 (2007) William C. Nichols [États-Unis] ; Diane K. Marek ; Michael W. Pauciulo ; Nathan Pankratz ; Cheryl A. Halter ; Alice Rudolph ; Clifford W. Shults ; Joanne Wojcieszek ; Tatiana ForoudR1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation.
001E89 (2008) Alex R. Paciorkowski [États-Unis] ; Melany Westwell ; Sylvia Ounpuu ; Katharine Bell ; Jeanne Kagan ; Cindy Mazzarella ; Robert M. GreensteinMotion analysis of a child with Niemann-Pick disease type C treated with miglustat.
002480 (2009) Greg T. Sutherland [Australie] ; Gerhard A. Siebert ; Jeremy R B. Newman ; Peter A. Silburn ; Richard S. Boyle ; John D. O'Sullivan ; George D. MellickHaplotype analysis of the PARK 11 gene, GIGYF2, in sporadic Parkinson's disease.
002497 (2009) Carles Vilari O-Güell ; Owen A. Ross ; Alexandra I. Soto ; Matthew J. Farrer ; Kristoffer Haugarvoll ; Jan O. Aasly ; Ryan J. Uitti ; Zbigniew K. WszolekReported mutations in GIGYF2 are not a common cause of Parkinson's disease.
002738 (2009) Monica Bonetti ; Alessandro Ferraris ; Martina Petracca ; Anna Rita Bentivoglio ; Bruno Dallapiccola ; Enza Maria ValenteGIGYF2 variants are not associated with Parkinson's disease in Italy.
003097 (2011) Julia Schicks ; Matthis Synofzik ; Hjörvar Pétursson ; Johanna Huttenlocher ; Matthias Reimold ; Ludger Schöls ; Peter BauerAtypical juvenile parkinsonism in a consanguineous SPG15 family.

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