Movement Disorders (revue) - Checkpoint (Ncbi)

Index « Mesh.i » - entrée « Mutation, Missense »
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Mutation < Mutation, Missense < Mutism  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 39.
[0-20] [0 - 20][0 - 39][20-38][20-40]
Ident.Authors (with country if any)Title
000365 (2000) M T Dotti [Italie] ; A. Federico ; R. Garuti ; S. CalandraCerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
000594 (2001) P J Hand [Australie] ; R J Gardner ; M A Knight ; S M Forrest ; E. StoreyClinical features of a large Australian pedigree with episodic ataxia type 1.
000C35 (2003) José L. Molinuevo [Espagne] ; María J. Martí ; Rafael Blesa ; Eduardo TolosaPure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome.
000E69 (2004) Lorraine N. Clark [États-Unis] ; Shehla Afridi ; Helen Mejia-Santana ; Juliette Harris ; Elan D. Louis ; Lucien J. Cote ; Howard Andrews ; Andrew Singleton ; Fabienne Wavrant De-Vrieze ; John Hardy ; Richard Mayeux ; Stanley Fahn ; Cheryl Waters ; Blair Ford ; Steven Frucht ; Ruth Ottman ; Karen MarderAnalysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.
000F92 (2004) Stefan H. Kreisel [Allemagne] ; Johannes Binder ; Johannes C. Wöhrle ; Joachim K. Krauss ; Sabine Hofmann ; Matthias F. Bauer ; Michael G. Hennerici ; Hansjörg B ZnerDystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances.
001005 (2005) Cecilia Marelli [Italie] ; Sylvie Piacentini ; Barbara Garavaglia ; Floriano Girotti ; Alberto AlbaneseClinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration.
001155 (2005) Eng-King Tan [Singapour] ; Van R. Chandran ; Stephanie Fook-Chong ; Hui Shen ; Kenneth Yew ; Mei-Lin Teoh ; Yih Yuen ; Yi ZhaoAlpha-synuclein mRNA expression in sporadic Parkinson's disease.
001325 (2005) Chiara Criscuolo [Italie] ; Francesco Saccà ; Giuseppe De Michele ; Pietro Mancini ; Onofre Combarros ; Jon Infante ; Antonio Garcia ; Sandro Banfi ; Alessandro Filla ; José BercianoNovel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
001375 (2005) Michel Goedert [Royaume-Uni]Tau gene mutations and their effects.
001436 (2006) Daan J. Kamphuis [Pays-Bas] ; Hans Koelman ; Andrew J. Lees ; Marina A J. TijssenSporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease.
001530 (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).
001609 (2006) Monique H M. Vlak [Pays-Bas] ; Richard J. Sinke ; Gwenda M. Rabelink ; Berry P H. Kremer ; Bart P C. Van De WarrenburgNovel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.
001612 (2006) Cindy Zadikoff [Canada] ; Ekaterina Rogaeva ; Ana Djarmati ; Christine Sato ; Shabnam Salehi-Rad ; Peter St George-Hyslop ; Christine Klein ; Anthony E. LangHomozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.
001719 (2006) Ana Djarmati [Allemagne] ; Katja Hedrich ; Marina Svetel ; Thora Lohnau ; Eberhard Schwinger ; Stanka Romac ; Peter P. Pramstaller ; Vladimir Kosti ; Christine KleinHeterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?
001736 (2006) Keiko Hiramoto [Japon] ; Hideshi Kawakami ; Kimiko Inoue ; Takahiro Seki ; Hirofumi Maruyama ; Hiroyuki Morino ; Masayasu Matsumoto ; Kaoru Kurisu ; Norio SakaiIdentification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
001997 (2007) Maria Teresa Pellecchia [Italie] ; Andrea Varrone ; Grazia Annesi ; Marianna Amboni ; Giulio Cicarelli ; Valeria Sansone ; Ferdinanda Annesi ; Francesca Emanuela Rocca ; Carmine Vitale ; Sabina Pappatà ; Aldo Quattrone ; Paolo BaroneParkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study.
001B05 (2007) Eng-King Tan ; Stephanie Fook-Chong ; Zhao YiComparing LRRK2 Gly2385Arg carriers with noncarriers.
001C24 (2007) Andrew Mckeon [Irlande (pays)] ; Laurie J. Ozelius ; Oria Hardiman ; Matthew J. Greenway ; Sean J. PittockHeterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred.
001E01 (2007) Stefan Wieczorek ; Larissa Arning ; Elke R. Gizewski ; Ingrid Alheite ; Duymal TimmannBenign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.
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.
002164 (2008) Manabu Funayama [Japon] ; Yuanzhe Li ; Tak-Hong Tsoi ; Ching-Wan Lam ; Takekazu Ohi ; Shogo Yazawa ; Eiichiro Uyama ; Ruth Djaldetti ; Eldad Melamed ; Hiroyo Yoshino ; Yoko Imamichi ; Hiroshi Takashima ; Kenya Nishioka ; Kenichi Sato ; Hiroyuki Tomiyama ; Shin-Ichiro Kubo ; Yoshikuni Mizuno ; Nobutaka HattoriFamilial Parkinsonism with digenic parkin and PINK1 mutations.

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