Poetry as Topic < Point Mutation < Point-of-Care Systems

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 120.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000042 (1999)	M. Neystat [États-Unis] ; T. Lynch ; S. Przedborski ; N. Kholodilov ; M. Rzhetskaya ; R E Burke	Alpha-synuclein expression in substantia nigra and cortex in Parkinson's disease.
000054 (1999)	L. Sudarsky [États-Unis] ; G M Plotkin ; E L Logigian ; D R Johns	Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation.
000112 (1999)	Y. Furukawa ; S J Kish	Dopa-responsive dystonia: recent advances and remaining issues to be addressed.
000115 (1999)	H R Morris [Royaume-Uni] ; A J Lees ; N W Wood	Neurofibrillary tangle parkinsonian disorders--tau pathology and tau genetics.
000126 (1999)	E. Cassetta [Italie] ; N. Del Grosso ; A R Bentivoglio ; E M Valente ; M. Frontali ; A. Albanese	Italian family with cranial cervical dystonia: clinical and genetic study.
000127 (1999)	A H Németh [Royaume-Uni] ; K R Mills ; J S Elston ; A. Williams ; E. Dunne ; N M Hyman	Do the same genes predispose to Gilles de la Tourette syndrome and dystonia? Report of a new family and review of the literature.
000402 (2000)	A. Filla [Italie] ; G. De Michele ; G. Coppola ; A. Federico ; G. Vita ; A. Toscano ; A. Uncini ; P. Pisanelli ; P. Barone ; V. Scarano ; A. Perretti ; L. Santoro ; A. Monticelli ; F. Cavalcanti ; G. Caruso ; S. Cocozza	Accuracy of clinical diagnostic criteria for Friedreich's ataxia.
000413 (2000)	M T Dotti [Italie] ; C. Battisti ; A. Malandrini ; A. Federico ; J P Rubio ; G. Circiarello ; A P Monaco	McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.
000418 (2000)	M A Koning-Tijssen [Pays-Bas] ; O F Brouwer	Hyperekplexia in the first year of life.
000423 (2001)	D A Grimes [Canada] ; D. Bulman ; P S George-Hyslop ; A E Lang	Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.
000437 (2001)	C S Lu [Taïwan] ; J C Wu ; C H Tsai ; R S Chen ; Y H Chou ; N. Hattori ; H. Yoshino ; Y. Mizuno	Clinical and genetic studies on familial parkinsonism: the first report on a parkin gene mutation in a Taiwanese family.
000489 (2001)	J. Hoenicka [Espagne] ; L. Vidal ; M. Godoy ; J J Ochoa ; J. García De Yébenes	New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism.
000804 (2002)	Danqing Zhu [Australie] ; Christopher Burke ; Anthony Leslie ; Garth A. Nicholson	Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.
000855 (2002)	Giuseppe Nicoletti [Italie] ; Grazia Annesi ; Sara Carrideo ; Carmine Tomaino ; Alfonso Di Costanzo ; Mario Zappia ; Aldo Quattrone	Familial essential tremor is not associated with SCA-12 mutation in southern Italy.
000920 (2002)	Mark A. Hellmann [Israël] ; Eldad Melamed	Focal dystonia as the presenting sign in Creutzfeldt-Jakob disease.
000A68 (2003)	Edith Werber [Israël] ; Colin Klein ; Jonathan Grünfeld ; José Martin Rabey	Phenotypic presentation of frontotemporal dementia with Parkinsonism-chromosome 17 type P301S in a patient of Jewish-Algerian origin.
000B21 (2003)	Sergei N. Illarioshkin [Russie] ; Magali Periquet ; Nina Rawal ; Christoph B. Lücking ; Tatyana B. Zagorovskaya ; Pyotr A. Slominsky ; Olga V. Miloserdova ; Elena D. Markova ; Svetlana A. Limborska ; Irina A. Ivanova-Smolenskaya ; Alexis Brice	Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism.
000C17 (2003)	Demetrius M. Maraganore [États-Unis] ; Matthew J. Farrer ; Timothy G. Lesnick ; Mariza De Andrade ; James H. Bower ; Dena Hernandez ; John A. Hardy ; Walter A. Rocca	Case-control study of the alpha-synuclein interacting protein gene and Parkinson's disease.
000C27 (2003)	Sarah J. Lincoln [États-Unis] ; Demetrius M. Maraganore ; Timothy G. Lesnick ; Rebecca Bounds ; Mariza De Andrade ; James H. Bower ; John A. Hardy ; Matthew J. Farrer	Parkin variants in North American Parkinson's disease: cases and controls.
000C35 (2003)	José L. Molinuevo [Espagne] ; María J. Martí ; Rafael Blesa ; Eduardo Tolosa	Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome.
000C71 (2003)	Marina A J. Tijssen [Pays-Bas] ; Peter Brown ; David Macmanus ; Mary A. Mclean ; Charles Davie	Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene.

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