Movement Disorders (revue) - Exploration (Accueil)

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Mutation (physiology) < Mutation, Missense < Mutation, Missense (genetics)  Facettes :

List of bibliographic references indexed by Mutation, Missense

Number of relevant bibliographic references: 25.
[0-20] [0 - 20][0 - 25][20-24][20-40]
Ident.Authors (with country if any)Title
000451 (2014) Michael Zech [Allemagne] ; Nadine Gross ; Angela Jochim ; Florian Castrop ; Maria Kaffe ; Christian Dresel ; Peter Lichtner ; Annette Peters ; Christian Gieger ; Thomas Meitinger ; Bernhard Haslinger ; Juliane WinkelmannRare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
000A72 (2013) Vikas Bhambhani [États-Unis] ; Wendy J. Introne [États-Unis] ; Codrin Lungu [États-Unis] ; Andrew Cullinane [États-Unis] ; Camilo Toro [États-Unis]Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism
000F10 (2012) Rita Horvath [Royaume-Uni] ; Elke Holinski-Feder ; Vivienne C M. Neeve ; Angela Pyle ; Helen Griffin ; Deephthi Ashok ; Charlotte Foley ; Gavin Hudson ; Bernd Rautenstrauss ; Gudrun Nürnberg ; Peter Nürnberg ; Jörg Kortler ; Birgit Neitzel ; Ingelore B Ssmann ; Thahira Rahman ; Bernard Keavney ; John Loughlin ; Sophie Hambleton ; Benedikt Schoser ; Hanns Lochmüller ; Mauro Santibanez-Koref ; Patrick F. ChinneryA new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
001511 (2011) Li Cao [République populaire de Chine] ; Qing-Zhou Fei [République populaire de Chine] ; Wei-Guo Tang ; Jian-Rong Liu [République populaire de Chine] ; Lan Zheng [République populaire de Chine] ; Qin Xiao [République populaire de Chine] ; Song-Bin He ; Yi Fu [République populaire de Chine] ; Sheng-Di Chen [République populaire de Chine]Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia
001E00 (2010) Kyoko Kanazawa [Japon] ; Satoko Kumada [Japon] ; Mitsuhiro Kato [Japon] ; Hirotomo Saitsu [Japon] ; Eiji Kurihara [Japon] ; Naomichi Matsumoto [Japon]Choreo–ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene
001F79 (2009) Giovanni Antonio Cocco [Italie] ; Georgios Loudianos [Italie] ; Giovanni Mario Pes [Italie] ; Francesco Tolu [Italie] ; Maria Barbara Lepori [Italie] ; Marianna Barrocu [Italie] ; Gian Pietro Sechi [Italie]“Acquired” hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene
002190 (2009) Wim Vandenberghe [Belgique] ; Koen Van Laere [Belgique] ; Frederik Debruyne [Belgique] ; Christine Van Broeckhoven [Belgique] ; Gert Van Goethem [Belgique]Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation
002289 (2009) Ming-Jen Lee [Taïwan] ; Ignacio F. Mata [États-Unis] ; Chin-Hsien Lin [Taïwan] ; Kai-Yuan Tzen [Taïwan] ; Sarah J. Lincoln [États-Unis] ; Rebecca Bounds [États-Unis] ; Paul J. Lockhart [Australie] ; Mary M. Hulihan [États-Unis] ; Matthew J. Farrer [États-Unis] ; Ruey-Meei Wu [Taïwan]Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism
002296 (2009) Susanne A. Schneider [Royaume-Uni] ; Coro Paisan-Ruiz [Royaume-Uni] ; Ines Garcia-Gorostiaga [Royaume-Uni, Espagne] ; Niall P. Quinn [Royaume-Uni] ; Yvonne G. Weber ; Holger Lerche [Allemagne] ; John Hardy [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias
002336 (2009) Irene Martinez-Torres [Royaume-Uni] ; Patricia Limousin [Royaume-Uni] ; Steve Tisch [Australie] ; Rupert Page [Royaume-Uni] ; Ashwin Pinto [Royaume-Uni] ; Thomas Foltynie [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Marwan I. Hariz [Royaume-Uni] ; Ludvic Zrinzo [Royaume-Uni]Early and marked benefit with GPi DBS for Lubag syndrome presenting with rapidly progressive life‐threatening dystonia
002403 (2009) Jason P. Covy [États-Unis] ; Wuxing Yuan [États-Unis] ; Elisa A. Waxman [États-Unis] ; Howard I. Hurtig [États-Unis] ; Vivianna M. Van Deerlin [États-Unis] ; Benoit I. Giasson [États-Unis]Clinical and pathological characteristics of patients with Leucine‐rich repeat kinase‐2 mutations
002413 (2009) Marianna Amboni [Italie] ; Maria Teresa Pellecchia [Italie] ; Autilia Cozzolino [Italie] ; Marina Picillo [Italie] ; Carmine Vitale [Italie] ; Paolo Barone [Italie] ; Andrea Varrone [Italie] ; Barbara Garavaglia [Italie] ; Simona Gambelli [Italie] ; Antonio Federico [Italie]Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK‐2
002755 (2008) Teresa Temudo [Portugal] ; Elisabete Ramos [Portugal] ; Karin Dias [Portugal] ; Clara Barbot [Portugal] ; Jose P. Vieira [Portugal] ; Ana Moreira [Portugal] ; Eulalia Calado [Portugal] ; Ines Carrilho [Portugal] ; Guiomar Oliveira [Portugal] ; Antonio Levy [Portugal] ; Maria Fonseca [Portugal] ; Alexandra Cabral [Portugal] ; Pedro Cabral [Portugal] ; Joao P. Monteiro [Portugal] ; Luis Borges [Portugal] ; Roseli Gomes [Portugal] ; Manuela Santos [Portugal] ; Jorge Sequeiros [Portugal] ; Patricia Maciel [Portugal]Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
002846 (2008) Manabu Funayama [Japon] ; Yuanzhe Li [Japon] ; Tak-Hong Tsoi [République populaire de Chine] ; Ching-Wan Lam [République populaire de Chine] ; Takekazu Ohi [Japon] ; Shogo Yazawa [Japon] ; Eiichiro Uyama [Japon] ; Ruth Djaldetti [Israël] ; Eldad Melamed [Israël] ; Hiroyo Yoshino [Japon] ; Yoko Imamichi [Japon] ; Hiroshi Takashima [Japon] ; Kenya Nishioka [Japon] ; Kenichi Sato [Japon] ; Hiroyuki Tomiyama [Japon] ; Shin-Ichiro Kubo [Japon] ; Yoshikuni Mizuno [Japon] ; Nobutaka Hattori [Japon]Familial Parkinsonism with digenic parkin and PINK1 mutations
002A30 (2008) Claudia Cagnoli [Italie] ; Alessandro Brussino [Italie] ; Luca Sbaiz [Italie] ; Eleonora Di Gregorio [Italie] ; Cristiana Atzori [Italie] ; Paola Caroppo [Italie] ; Laura Orsi [Italie] ; Nicola Migone [Italie] ; Carlo Buffa [Italie] ; Daniele Imperiale [Italie] ; Alfredo Brusco [Italie]A previously undiagnosed case of Gerstmann‐Sträussler‐Scheinker disease revealed by PRNP gene analysis in patients with adult‐onset ataxia
002E19 (2007) Andrew Mckeon [Irlande (pays)] ; Laurie J. Ozelius [États-Unis] ; Oria Hardiman [Irlande (pays)] ; Matthew J. Greenway [Irlande (pays)] ; Sean J. Pittock [Irlande (pays), États-Unis]Heterogeneity of presentation and outcome in the Irish rapid‐onset dystonia–Parkinsonism kindred
002F44 (2007) Eng-King Tan [Singapour] ; Stephanie Fook-Chong [Singapour] ; Zhao Yi [Singapour]Comparing LRRK2 Gly2385Arg carriers with noncarriers
002F92 (2007) Stefan Wieczorek [Allemagne] ; Larissa Arning [Allemagne] ; Elke R. Gizewski [Allemagne] ; Ingrid Alheite [Allemagne] ; Dagmar Timmann [Allemagne]Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene
003183 (2006) Daan J. Kamphuis [Pays-Bas] ; Hans Koelman [Pays-Bas] ; Andrew Lees (neurologue) [Royaume-Uni] ; Marina A. J. Tijssen [Pays-Bas]Sporadic rapid‐onset dystonia–parkinsonism presenting as Parkinson's disease
003309 (2006) Monique H. M. Vlak [Pays-Bas] ; Richard J. Sinke [Pays-Bas] ; Gwenda M. Rabelink [Pays-Bas] ; Berry P. H. Kremer [Pays-Bas] ; Bart P. C. Van De Warrenburg [Pays-Bas]Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype
003393 (2006) Keiko Hiramoto [Japon] ; Hideshi Kawakami [Japon] ; Kimiko Inoue [Japon] ; Takahiro Seki [Japon] ; Hirofumi Maruyama [Japon] ; Hiroyuki Morino [Japon] ; Masayasu Matsumoto [Japon] ; Kaoru Kurisu [Japon] ; Norio Sakai [Japon]Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4

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