DNA Methylation < DNA Mutational Analysis < DNA Primers

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List of bibliographic references

Number of relevant bibliographic references: 208.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
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.
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.
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.
000134 (1999)	P. Chariot [France] ; P. Brugières ; M C Eliezer-Vanerot ; C. Gény ; M. Binaghi ; P. Césaro	Choreic movements and MRI abnormalities in the subthalamic nuclei reversible after administration of coenzyme Q10 and multiple vitamins in a patient with bilateral optic neuropathy.
000187 (2000)	O. Bandmann [Royaume-Uni] ; J R Vaughan ; P. Holmans ; C D Marsden ; N W Wood	Detailed genotyping demonstrates association between the slow acetylator genotype for N-acetyltransferase 2 (NAT2) and familial Parkinson's disease.
000296 (2000)	T. Klockgether [Allemagne] ; U. Wüllner ; A. Spauschus ; B. Evert	The molecular biology of the autosomal-dominant cerebellar ataxias.
000318 (2000)	R E Tabamo [États-Unis] ; H H Fernandez ; J H Friedman ; D K Simon	Young-onset Parkinson's disease: a clinical pathologic description of two siblings.
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.
000350 (2000)	A. Münchau [Royaume-Uni] ; E M Valente ; M B Davis ; V. Stinton ; N W Wood ; N P Quinn ; K P Bhatia	A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia.
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.
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.
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.
000571 (2001)	C. Klein ; G S Stewart ; N P Quinn ; A M Taylor	Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder.
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.
000727 (2002)	Puneet Opal [États-Unis] ; Ron Tintner ; Joseph Jankovic [États-Unis] ; Joanne Leung ; Xandra O. Breakefield ; Jennifer Friedman ; Laurie Ozelius	Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm.
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.
000842 (2002)	Pramod K. Pal [Canada] ; Joanne Leung ; Katya Hedrich ; Ali Samii ; Abraham Lieberman ; Paul A. Nausieda ; Donald B. Calne ; Xandra O. Breakefield ; Christine Klein ; A Jon Stoessl	[18F]-Dopa positron emission tomography imaging in early-stage, non-parkin juvenile parkinsonism.
000850 (2002)	Marina A J. Tijssen [Pays-Bas] ; Monique N. Vergouwe ; J Gert Van Dijk ; Michelle Rees ; Rune R. Frants ; Peter Brown	Major and minor form of hereditary hyperekplexia.

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