Déterminisme génétique And NotChen-Ming Sun

List of bibliographic references

Number of relevant bibliographic references: 58.

Ident.	Authors (with country if any)	Title
002319	Yoshiki Sekijima [Japon] ; Takao Hashimoto [Japon] ; Osam Onodera [Japon] ; Hidetoshi Date [Japon] ; Tomomi Okano [Japon] ; Kosuke Naito [Japon] ; Shoji Tsuji [Japon] ; Shu-Ichi Ikeda [Japon]	Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation
002371	Takao Hashimoto [Japon] ; Osamu Sasaki [Japon] ; Kunihiro Yoshida [Japon] ; Yo-Ichi Takei [Japon] ; Shu-Ichi Ikeda [Japon]	Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6
002398	Sergei N. Illarioshkin [Russie] ; Magali Periquet [France] ; Nina Rawal [France] ; Christoph B. Lücking [France] ; Tatyana B. Zagorovskaya [Russie] ; Pyotr A. Slominsky [Russie] ; Olga V. Miloserdova [Russie] ; Elena D. Markova [Russie] ; Svetlana A. Limborska [Russie] ; Irina A. Ivanova-Smolenskaya [Russie] ; Alexis Brice [France]	Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism
002404	Thomas Gasser [Allemagne] ; Susan Bressman [États-Unis] ; Alexandra Dürr [France] ; Joseph Higgins [États-Unis] ; Thomas Klockgether [Allemagne] ; Richard H. Myers [États-Unis]	Molecular diagnosis of inherited movement disorders. Movement disorders Society Task Force on Molecular Diagnosis
002428	Masataka Nishimura [Japon] ; Sadako Kuno [Japon] ; Ikuko Mizuta [Japon] ; Mitsuhiro Ohta [Japon] ; Hirofumi Maruyama [Japon] ; Ryuji Kaji [Japon] ; Hideshi Kawakami [Japon]	Influence of monocyte chemoattractant protein 1 gene polymorphism on age at onset of sporadic Parkinson's disease
002447	HYUN SOOK KIM [Corée du Sud] ; MYUNG SIK LEE [Corée du Sud]	Frequencies of single nucleotide polymorphism in alcohol dehydrogenase7 gene in patients with multiple system atrophy and controls
002475	Craig E. Hou [États-Unis] ; Bradley L. Schlaggar [États-Unis] ; Brad A. Racette [États-Unis]	Dystonia in a patient with ring chromosome 21
002484	Ronald B. Postuma [Canada, États-Unis] ; Yoshiaki Furukawa [Canada] ; Ekaterina Rogaeva [Canada] ; Peter H. St. George-Hyslop [Canada] ; Matt J. Farrer [Canada] ; Anthony E. Lang [Canada]	Dopa-responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of Parkin?
002491	Ruth H. Walker [États-Unis] ; P. Shashidharan [États-Unis]	Developments in the molecular biology of DYT1 dystonia
002538	Enza-Maria Valente [Italie] ; Anjum Misbahuddin [Royaume-Uni] ; Francesco Brancati [Italie] ; Mark R. Placzek [Royaume-Uni] ; Barbara Garavaglia [Italie] ; Sergio Salvi [Italie] ; Andrea Nemeth [Royaume-Uni] ; Charles Shaw-Smith [Royaume-Uni] ; Nardo Nardocci [Italie] ; Anna-Rita Bentivoglio [Italie] ; Alfredo Berardelli [Italie] ; Roberto Eleopra [Italie] ; Bruno Dallapiccola [Italie] ; Thomas T. Warner [Royaume-Uni]	Analysis of the ∈-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity
002557	Pramod K. Pal [Canada] ; Joanne Leung [États-Unis] ; Katya Hedrich [Allemagne] ; Ali Samii [Canada] ; Abraham Lieberman [États-Unis] ; Paul A. Nausieda [États-Unis] ; Donald B. Calne [Canada] ; Xandra O. Breakefield [États-Unis] ; Christine Klein [Allemagne] ; A. Jon Stoessl [Canada]	[18F]-dopa positron emission tomography imaging in early-stage, non-parkin juvenile parkinsonism
002570	Maureen A. Leehey [États-Unis] ; Randi J. Hagerman [États-Unis] ; William M. Landau [États-Unis] ; Jim Grigsby [États-Unis] ; Flora Tassone [États-Unis] ; Paul J. Hagerman [États-Unis]	Tremor/ataxia syndrome in fragile X carrier males
002698	Marina A. J. Tijssen [Pays-Bas] ; Monique N. Vergouwe [Pays-Bas] ; J. Gert Van Dijk [Pays-Bas] ; Michelle Rees [Royaume-Uni] ; Rune R. Fronts [Pays-Bas] ; Peter Brown [Royaume-Uni]	Major and minor form of hereditary hyperekplexia
002712	Patrick F. Chinnery [Royaume-Uni] ; Paul J. Reading [Royaume-Uni] ; Emma L. Mccarthy [Royaume-Uni] ; Ann Curtis [Royaume-Uni] ; David J. Burn [Royaume-Uni]	Late-onset axial jerky dystonia due to the DYT1 deletion
002736	Thomas D. Bird [États-Unis]	Hereditary benign chorea
002742	Katrina Gwinn-Hardy [États-Unis]	Genetics of parkinsonism
002743	Sian D. Spacey [Royaume-Uni, Canada] ; Enza-Maria Valente [Royaume-Uni, Italie] ; Gurusidheshwar M. Wali [Inde] ; Thomas T. Warner [Royaume-Uni] ; Paul R. Jarman [Royaume-Uni] ; Anthony H. V. Schapira [Royaume-Uni] ; Peter H. Dixon [Royaume-Uni] ; Mary B. Davis [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni]	Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene
002745	Pau Pastor [Espagne] ; Mario Ezquerra [Espagne] ; Eduardo Tolosa [Espagne] ; Esteban Munoz [Espagne] ; Maria José Marti [Espagne] ; Francesc Valldeoriola [Espagne] ; José Luis Molinuevo [Espagne] ; Matilde Calopa [Espagne] ; Rafael Oliva [Espagne]	Further extension of the H1 haplotype associated with progressive supranuclear palsy
002749	DANQING ZHU [Australie] ; Christopher Burke [Australie] ; Anthony Leslie [Australie] ; Garth A. Nicholson [Australie]	Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion
002758	Giuseppe Nicoletti [Italie] ; Grazia Annesi [Italie] ; Sara Carrideo [Italie] ; Carmine Tomaino [Italie] ; Alfonso Di Costanzo [Italie] ; Mario Zappia [Italie] ; Aldo Quattrone [Italie]	Familial essential tremor is not associated with SCA-12 mutation in Southern Italy
002759	Thomas D. Bird [États-Unis]	Familial dyskinesia and facial myokymia
002820	Masataka Nishimura [Japon] ; Hideshi Kawakami [Japon] ; Osamu Komure [Japon] ; Hirofumi Maruyama [Japon] ; Hiroyuki Morino [Japon] ; Yuishin Izumi [Japon] ; Shigenobu Nakamura [Japon] ; Ryuji Kaji [Japon] ; Sadako Kuno [Japon]	Contribution of the interleukin-1β gene polymorphism in multiple system atrophy
002824	Anne Thiriaux [France] ; Anne De St Martin [France] ; Laurent Vercueil [France] ; Fabrice Battaglia [France] ; Jean-Paul Armspach [France] ; Edouard Hirsch [France] ; Christian Marescaux [France] ; Izzie J. Namer [France]	Co-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: Clinical, EEG, and SPECT characterization of episodic events
002856	Masataka Nishimura [Japon] ; Ryuji Kaji [Japon] ; Mitsuhiro Ohta [Japon] ; Ikuko Mizuta [Japon] ; Sadako Kuno [Japon]	Association between dopamine transporter gene polymorphism and susceptibility to Parkinson's disease in Japan
002946	J. Hoenicka [Espagne] ; L. Vidal [Espagne] ; M. Godoy [Espagne] ; J. J. Ochoa [Espagne] ; J. Garcia De Yebenes [Espagne]	New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism
002957	Massimo Pandolfo [Canada]	Molecular basis of friedreich ataxia
002A49	B. Sanjay Harhangi [Pays-Bas] ; Ben A. Oostra [Pays-Bas] ; Peter Heutink [Pays-Bas] ; Cornelia M. Van Duijn [Pays-Bas] ; Albert Hofman [Pays-Bas] ; Monique M. B. Breteler [Pays-Bas]	CYP2D6 polymorphism in Parkinson's disease : The Rotterdam study
002B02	Alain Destée [France] ; Isabelle Delalande [France] ; Isabelle Vuillaume [France] ; Susanna Schraen-Maschke [France] ; Luc Defebvre [France] ; Bernard Sablonniere [France]	The first identified French family with dentatorubral-pallidoluysian atrophy
002B09	Christoph Kamm [Allemagne] ; Markus Naumann [Allemagne] ; Joerg Mueller [Autriche] ; Norbert Mai [Allemagne] ; Leonhard Riedel [Allemagne] ; Joerg Wissel [Autriche] ; Thomas Gasser [Allemagne]	The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp
002B71	Maria Teresa Dotti [Italie] ; Carla Battisti [Italie] ; Alessandro Malandrini [Italie] ; Antonio Federico [Italie] ; Justin P. Rubio [Australie] ; Giuseppe Circiarello [Italie] ; Anthony P. Monaco [Royaume-Uni]	Mcleod syndrome and neuroacanthocytosis with a novel mutation in the XK gene
002B74	Matt Farrer [États-Unis, France] ; Alain Destée [France] ; Estelle Becquet ; Fabienne Wavrant-De Vrieze [États-Unis] ; Vincent Mouroux ; Florence Richard ; Luc Defebvre [France] ; Sarah Lincoln [États-Unis] ; John Hardy [États-Unis] ; Philippe Amouyel ; Marie-Christine Chartier-Harlin	Linkage exclusion in French families with probable Parkinson's disease
002C24	O. Bandmann [Royaume-Uni] ; J. R. Vaughan [Royaume-Uni] ; P. Holmans [Royaume-Uni] ; C. D. Marsden [Royaume-Uni] ; N. W. Wood [Royaume-Uni]	Detailed genotyping demonstrates association between the slow acetylator genotype for N-acetyltransferase 2 (NAT2) and familial Parkinson's disease
002C36	Sergei N. Illarioshkin [Russie] ; Irina A. Ivanova-Smolenskaya [Russie] ; Rahmatullo A. Rahmonov [Russie] ; Elena D. Markova [Russie] ; Giovanni Stevanin [France] ; Alexis Brice [France]	Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan
002C40	Maria Teresa Dotti [Italie] ; Antonio Federico [Italie] ; Rita Garuti [Italie] ; Sebastiano Calandra [Italie]	Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome : Further confirmation of the clinical heterogeneity
002C66	Shintaro Hayashi [Japon] ; Koichi Wakabayashi [Japon] ; Atsushi Ishikawa [Japon] ; Hiroko Nagai [Japon] ; Masaaki Saito [Japon] ; Mieko Maruyama [Japon] ; Toshiaki Takahashi [Japon] ; Tetsutaro Ozawa [Japon] ; Shoji Tsuji [Japon] ; Hitoshi Takahashi [Japon]	An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene
002C69	L. Grevle [Norvège] ; C. Güzey [Norvège] ; H. Hadidi [Norvège] ; R. Brennersted [Norvège] ; J. R. Idle [Norvège] ; J. Aasly [Norvège]	Allelic association between the DRD2 TaqI A polymorphism and Parkinson's disease
002C70	Silvia Buervenich [Suède] ; Olof Sydow [Suède] ; Andrea Carmine [Suède] ; ZHIPING ZHANG [Suède] ; Maria Anvret [Suède] ; Lars Olson [Suède]	Alcohol dehydrogenase alleles in Parkinson's disease
002C78	A. Münchau [Royaume-Uni] ; E. M. Valente [Royaume-Uni] ; M. B. Davis [Royaume-Uni] ; V. Stinton [Royaume-Uni] ; N. W. Wood [Royaume-Uni] ; N. P. Quinn [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]	A yorkshire family with adult-onset cranio-cervical primary torsion dystonia
002C83
002D12	A. Lazzarini [États-Unis] ; A. S. Walters [États-Unis] ; K. Hickey [États-Unis] ; G. Coccagna [Italie] ; E. Lugaresi [Italie] ; B. L. Ehrenberg [États-Unis] ; D. L. Picchietti [États-Unis] ; M. F. Brin [États-Unis] ; E. S. Stenroos [États-Unis] ; T. Verrico [États-Unis] ; W. G. Johnson [États-Unis]	Studies of penetrance and anticipation in five autosomal-dominant restless legs syndrome pedigrees
002E29	L. Sudarsky [États-Unis] ; G. M. Plotkin [États-Unis] ; E. L. Logigian [États-Unis] ; D. R. Johns [États-Unis]	Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation
002E92	M. W. Hayes [Australie] ; R. A. Ouvrier [Australie] ; W. Evans [Australie] ; E. Somerville [Australie] ; J. G. L. Morris [Australie]	X-linked Dystonia-Deafness syndrome
002F61	A. G. Riedl [Royaume-Uni] ; P. M. Watts [Royaume-Uni] ; P. Jenner [Royaume-Uni] ; C. D. Marsden [Royaume-Uni]	P450 enzymes and Parkinson's disease : The story so far
003001	E. Silber [Afrique du Sud] ; J. Kromberg [Afrique du Sud] ; J. A. Temlett [Afrique du Sud] ; A. Krause [Afrique du Sud] ; D. Saffer [Afrique du Sud]	Huntington's disease confirmed by genetic testing in five African families
003006	O. Bandmann [Royaume-Uni] ; C. D. Marsden [Royaume-Uni] ; N. W. Wood [Royaume-Uni]	Genetic aspects of Parkinson's disease
003007	M. G. Hanna [Royaume-Uni] ; M. B. Davis [Royaume-Uni] ; M. G. Sweeney [Royaume-Uni] ; M. Noursadeghi [Royaume-Uni] ; C. J. Ellis [Royaume-Uni] ; P. Elliot [Royaume-Uni] ; N. W. Wood [Royaume-Uni] ; C. D. Marsden [Royaume-Uni]	Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion
003025	M. F. Brin [États-Unis] ; W. Koller [États-Unis]	Epidemiology and genetics of essential tremor
003224	T. Xie [Hong Kong] ; S. L. Ho [Hong Kong] ; L. S. W. Li [Hong Kong] ; O. C. K. Ma [Hong Kong]	G/A1947 polymorphism in catechol-O-methyltransferase (COMT) gene in Parkinson's disease
003229	J. J. Higgins [États-Unis] ; L. T. Pho [États-Unis] ; S. E. Ide [États-Unis] ; L. E. Nee [États-Unis] ; M. H. Polymeropoulos [États-Unis]	Evidence for a new spinocerebellar ataxia locus
003298	T. Hanihara [Japon] ; K. Inoue [Japon] ; C. Kawanishi [Japon] ; N. Sugiyama [Japon] ; T. Miyakawa [Japon] ; H. Onishi [Japon] ; Y. Yamada [Japon] ; H. Osaka [Japon] ; K. Kosaka [Japon] ; K. Iwabuchi [Japon] ; M. Owada [Japon]	6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms : A clinical and molecular study
003351	T. Gasser [Allemagne] ; B. Bereznai [Allemagne] ; B. Müller ; R. Pruszak-Seel ; R. Damrich ; G. Deuschl ; W. H. Oertel [Allemagne]	Linkage studies in alcohol-responsive myoclonic dystonia
003504	M. F. Gordon [États-Unis] ; S. Bressman ; M. F. Brin ; D. De Leon ; D. Warburton ; KWAME YEBOA ; S. Fahn	Dystonia in a patient with deletion of 18q
003716	D. Conway [Royaume-Uni] ; P. G. Bain ; T. T. Warner ; M. B. Davis ; L. J. Findley ; P. D. Thompson ; C. D. Marsden ; A. E. Harding	Linkage analysis with chromosome 9 markers in hereditary essential tremor
003876	N. A. Fletcher [Royaume-Uni] ; A. E. Harding ; C. D. Marsden	Intrafamilial correlation in idiopathic torsion dystonia
003883	S. Fahn ; O. Sjaastad	Hereditary essential myoclonus in a large Norwegian family
003908	D. M. Maraganore ; A. E. Harding ; C. D. Marsden	A clinical and genetic study of familial Parkinson's disease
003915	W. G. Johnson ; S. E. Hodge ; R. Duvoisin	Twin studies and the genetics of Parkinson's disease ― a reappraisal
003968	M. Kyllerman ; L. Forsgren ; G. Sanner ; G. Holmgren ; J. Wahlstroêm ; U. Drugge	Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Déterminisme génétique And NotChen-Ming Sun

List of bibliographic references