Mutant Proteins (metabolism) < Mutation < Mutation (genetics)

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List of bibliographic references

Number of relevant bibliographic references: 104.
[20-40] [0 - 20][0 - 50][40-60]

Ident.	Authors (with country if any)	Title
001248 (2005)	Etsuro Ohta ; Itaru Toyoshima ; Manabu Funayama ; Hiroshi Ichinose ; Kazuko Hasegawa ; Fumiya Obata	A new mutation (Thr106Ile) of the GTP cyclohydrolase 1 gene associated with DYT5 dystonia (Segawa disease).
001249 (2005)	Jordi Clarimon [États-Unis] ; Janel Johnson ; Ruth Djaldetti ; Dena Hernandez ; Nobutaka Hattori ; Hava Sroka ; Yael Barhom ; Andrew Singleton	Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period.
001263 (2005)	Aideen Mcinerney-Leo	Genetic testing in Parkinson's disease.
001311 (2005)	Denise M. Kay ; Patricia Kramer ; Don Higgins ; Cyrus P. Zabetian ; Haydeh Payami	Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation.
001354 (2005)	Eliecer Coto [Espagne] ; Daniel Armenta ; Raúl Espinosa ; Joaquín Argente ; M Nica G. Castro ; Victoria Alvarez	Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.
001488 (2006)	Esther Brusse [Pays-Bas] ; Inge De Koning ; Anneke Maat-Kievit ; Ben A. Oostra ; Peter Heutink ; John C. Van Swieten	Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.
001516 (2006)	Denise M. Kay [États-Unis] ; Cyrus P. Zabetian ; Stewart A. Factor ; John G. Nutt ; Ali Samii ; Alida Griffith ; Tom D. Bird ; Patricia Kramer ; Donald S. Higgins ; Haydeh Payami	Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics.
001529 (2006)	Lena Elisabeth Hjermind [Danemark] ; Lis Gitte Johannsen ; Nenad Blau ; Ron Allan Wevers ; Christoph-Burkhard Lucking ; Jens Michael Hertz ; Lars Friberg ; Lisbeth Regeur ; J Rgen Erik Nielsen ; Sven Asger S Rensen	Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
001576 (2006)	Eng-King Tan [Singapour] ; Kenneth Yew ; Eva Chua ; K. Puvan ; Hui Shen ; Esther Lee ; Kim-Yoong Puong ; Yi Zhao ; Ratnagopal Pavanni ; Meng-Cheong Wong ; Dominic Jamora ; Deidre De Silva ; Kyaw-Thu Moe ; Fung-Peng Woon ; Yih Yuen ; Louis Tan	PINK1 mutations in sporadic early-onset Parkinson's disease.
001581 (2006)	Hon-Chung Fung [États-Unis] ; Chiung-Mei Chen ; John Hardy ; Dena Hernandez ; Andrew Singleton ; Yih-Ru Wu	Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease.
001642 (2006)	Hiroyuki Tomiyama [Japon] ; Yuanzhe Li ; Manabu Funayama ; Kazuko Hasegawa ; Hiroyo Yoshino ; Shin-Ichiro Kubo ; Kenichi Sato ; Tatsuya Hattori ; Chin-Song Lu ; Rivka Inzelberg ; Ruth Djaldetti ; Eldad Melamed ; Rim Amouri ; Neziha Gouider-Khouja ; Faycal Hentati ; Yasuko Hatano ; Mei Wang ; Yoko Imamichi ; Koichi Mizoguchi ; Hiroaki Miyajima ; Fumiya Obata ; Tatsushi Toda ; Matthew J. Farrer ; Yoshikuni Mizuno ; Nobutaka Hattori	Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries.
001646 (2006)	Roberta Marongiu [Italie] ; Daniele Ghezzi ; Tamara Ialongo ; Francesco Soleti ; Antonio Elia ; Stefania Cavone ; Alberto Albanese ; Maria Concetta Altavista ; Paolo Barone ; Livia Brusa ; Pietro Cortelli ; Lucia Petrozzi ; Cesa Scaglione ; Paolo Stanzione ; Michele Tinazzi ; Massimo Zeviani ; Bruno Dallapiccola ; Anna Rita Bentivoglio ; Enza Maria Valente ; Barbara Garavaglia	Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
001666 (2006)	Ioannis U. Isaias [Italie] ; Riccardo Benti ; Stefano Goldwurm ; Michela Zini ; Roberto Cilia ; Paolo Gerundini ; Alessio Di Fonzo ; Vincenzo Bonifati ; Gianni Pezzoli ; Angelo Antonini	Striatal dopamine transporter binding in Parkinson's disease associated with the LRRK2 Gly2019Ser mutation.
001691 (2006)	Chiara Criscuolo [Italie] ; Giampiero Volpe ; Anna De Rosa ; Andrea Varrone ; Roberta Marongiu ; Pietro Mancini ; Elena Salvatore ; Bruno Dallapiccola ; Alessandro Filla ; Enza Maria Valente ; Giuseppe De Michele	PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.
001828 (2006)	Ina Schmitt ; Ullrich Wüllner ; Daniel G. Healy ; Nicholas W. Wood ; Heike Kölsch ; Reinhard Heun	The ADH1C stop mutation in multiple system atrophy patients and healthy probands in the United Kingdom and Germany.
001839 (2006)	Elka Stefanova ; Ana Djarmati ; Dragana Momcilovi ; Natasa Dragasevi ; Marina Svetel ; Christine Klein ; Vladimir S. Kosti	Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation.
001841 (2006)	C Warren Olanow [États-Unis] ; Kevin St P. Mcnaught	Ubiquitin-proteasome system and Parkinson's disease.
001869 (2007)	Anja Hiller [Allemagne] ; Johann M. Hagenah ; Ana Djarmati ; Katja Hedrich ; Kathrin Reetz ; Christiane Schneider-Gold ; Wolfgang Kress ; Alexander Münchau ; Christine Klein	Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.
001873 (2006)	Hui-Fang Shang [République populaire de Chine] ; Xiao-Feng Jiang ; Jean-Marc Burgunder ; Qin Chen ; Dong Zhou	Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus.
001895 (2006)	Ruth H. Walker ; Qinyue Liu ; Mio Ichiba ; Shinji Muroya ; Masyuki Nakamura ; Akira Sano ; Cheryl A. Kennedy ; Gary Sclar	Self-mutilation in chorea-acanthocytosis: Manifestation of movement disorder or psychopathology?
001899 (2006)	Sofya N. Pchelina [Russie] ; Andrei F. Yakimovskii ; Olga N. Ivanova ; Anton K. Emelianov ; Andrei H. Zakharchuk ; Alexander L. Schwarzman	G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia.

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