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

Facettes :

List of bibliographic references

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

Ident.	Authors (with country if any)	Title
000326 (2000)	E. Jaros [Royaume-Uni] ; D J Burn	The pathogenesis of multiple system atrophy: past, present, and future.
000330 (2000)	S. Buervenich [Suède] ; O. Sydow ; A. Carmine ; Z. Zhang ; M. Anvret ; L. Olson	Alcohol dehydrogenase alleles in Parkinson's disease.
000341 (2000)	S. Hayashi [Japon] ; K. Wakabayashi ; A. Ishikawa ; H. Nagai ; M. Saito ; M. Maruyama ; T. Takahashi ; T. Ozawa ; S. Tsuji ; H. Takahashi	An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene.
000358 (2000)	A. Destée [France] ; I. Delalande ; I. Vuillaume ; S. Schraen-Maschke ; L. Defebvre ; B. Sablonnière	The first identified French family with dentatorubral-pallidoluysian atrophy.
000366 (2000)	S N Illarioshkin [Russie] ; I A Ivanova-Smolenskaya ; R A Rahmonov ; E D Markova ; G. Stevanin ; A. Brice	Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan.
000375 (2000)	M. Farrer [États-Unis] ; T. Destée ; E. Becquet ; F. Wavrant-De Vrièze ; V. Mouroux ; F. Richard ; L. Defebvre ; S. Lincoln ; J. Hardy ; P. Amouyel ; M C Chartier-Harlin	Linkage exclusion in French families with probable Parkinson' s disease.
000398 (2000)	C. Kamm [Allemagne] ; M. Naumann ; J. Mueller ; N. Mai ; L. Riedel ; J. Wissel ; T. Gasser	The 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 Monaco	The chorea of McLeod syndrome.
000799 (2002)	Pau Pastor [Espagne] ; Mario Ezquerra ; Eduardo Tolosa ; Esteban Mu Oz ; María José Martí ; Francesc Valldeoriola ; José Luís Molinuevo ; Matilde Calopa ; Rafael Oliva	Further extension of the H1 haplotype associated with progressive supranuclear palsy.
000A73 (2003)	Demetrius M. Maraganore [États-Unis] ; Mariza De Andrade ; Timothy G. Lesnick ; Matthew J. Farrer ; James H. Bower ; John A. Hardy ; Walter A. Rocca	Complex interactions in Parkinson's disease: a two-phased approach.
000A86 (2003)	Mark Edwards [Royaume-Uni] ; Nicholas Wood ; Kailash Bhatia	Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature.
000A89 (2003)	Ying Peng [États-Unis] ; Roger Crumley ; John M. Ringman	Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA.
000B90 (2003)	Ruth H. Walker [États-Unis] ; P. Shashidharan	Developments in the molecular biology of DYT1 dystonia.
000C07 (2003)	Yoshiki Sekijima [Japon] ; Takao Hashimoto ; Osam Onodera ; Hidetoshi Date ; Tomomi Okano ; Kosuke Naito ; Shoji Tsuji ; Shu-Ichi Ikeda	Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.
000C08 (2003)	Takao Hashimoto [Japon] ; Osamu Sasaki ; Kunihiro Yoshida ; Yo-Ichi Takei ; Shu-Ichi Ikeda	Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6.
001007 (2005)	Pablo Mir [Royaume-Uni] ; Mark J. Edwards ; Andrew R J. Curtis ; Kailash P. Bhatia ; Niall P. Quinn	Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene.
001059 (2005)	Douglas E. Crompton [Royaume-Uni] ; Patrick F. Chinnery ; David Bates ; Timothy J. Walls ; Margaret J. Jackson ; Andrew J. Curtis ; John Burn	Spectrum of movement disorders in neuroferritinopathy.
001149 (2005)	Carsten Saft [Allemagne] ; Jochen Zange ; Jürgen Andrich ; Klaus Müller ; Katrin Lindenberg ; Bernhard Landwehrmeyer ; Matthias Vorgerd ; Peter H. Kraus ; Horst Przuntek ; Ludger Schöls	Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease.
001180 (2005)	Katharina Diepold [Allemagne] ; Barbara Schütz ; Kevin Rostasy ; Bernd Wilken ; Pia Hougaard ; Flemming Güttler ; Anne Romstad ; Lisbeth Birk M Ller	Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.
001186 (2005)	Yu-Hu Zhang [République populaire de Chine] ; Bei-Sha Tang [République populaire de Chine] ; Ai-Ling Zhao [République populaire de Chine] ; Kun Xia [République populaire de Chine] ; Zhi-Gao Long [République populaire de Chine] ; Ji-Feng Guo [République populaire de Chine] ; Shawn K. Westaway [États-Unis] ; Susan J. Hayflick [États-Unis]	Novel Compound Heterozygous Mutations in the PANK2 Gene in a Chinese Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration
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).

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