Mutant Proteins < Mutation < Mutation, Missense

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 331.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000078 (1999)	O. Joost [États-Unis] ; C A Taylor ; C A Thomas ; L A Cupples ; M H Saint-Hilaire ; R G Feldman ; C T Baldwin ; R H Myers	Absence of effect of seven functional mutations in the CYP2D6 gene in Parkinson's disease.
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.
000577 (2001)	M. Pandolfo [Canada]	Molecular basis of Friedreich ataxia.
000585 (2001)	A. Danek [Allemagne] ; F. Tison ; J. Rubio ; M. Oechsner ; W. Kalckreuth ; A P Monaco	The chorea of McLeod syndrome.
000607 (2001)	S. Bostantjopoulou [Grèce] ; Z. Katsarou ; A. Papadimitriou ; V. Veletza ; G. Hatzigeorgiou ; A. Lees	Clinical features of parkinsonian patients with the alpha-synuclein (G209A) mutation.
000620 (2001)	P. Pastor [Espagne] ; E. Mu Oz ; M. Ezquerra ; V. Obach ; M J Martí ; F. Valldeoriola ; E. Tolosa ; R. Oliva	Analysis of the coding and the 5' flanking regions of the alpha-synuclein gene in patients with Parkinson's disease.
000628 (2001)	D O Mcdaniel [États-Unis] ; B. Keats ; V V Vedanarayanan ; S H Subramony	Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.
000740 (2002)	Giovanna Zorzi [Italie] ; Barbara Garavaglia ; Federica Invernizzi ; Floriano Girotti ; Paola Soliveri ; Massimo Zeviani ; Lucia Angelini ; Nardo Nardocci	Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.
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.
000825 (2002)	Ruey-Meei Wu [République populaire de Chine] ; Din-E Shan ; Chen-Ming Sun ; Ren-Shyan Liu ; Wuh-Liang Hwu ; Chun-Hwei Tai ; Jennifer Hussey ; Andrew West ; Katrina Gwinn-Hardy ; John Hardy ; Judy Chen ; Matt Farrer ; Sarah Lincoln	Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations.
000859 (2002)	Spiridon Papapetropoulos ; Christos Paschalis ; John Ellul ; Thodoros Papapetropoulos ; Aglaia Athanassiadou	Survival duration of Parkinson's disease patients living in Greece who carry the G209A alpha-synuclein mutation.
000960 (2002)	Blas Morales ; Armando Martínez ; Isabel Gonzalo ; Lidice Vidal ; Raquel Ros ; Estrella Gomez-Tortosa ; Alberto Rabano ; Israel Ampuero ; Marina Sánchez ; Janet Hoenicka ; Justo García De Yébenes	Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein.
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.

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