Genetic counseling < Genetic determinism < Genetic disease

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 48.
[0-20] [0 - 20][0 - 48][20-40]

Ident.	Authors (with country if any)	Title
002319 (2003)	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 (2003)	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 (2003)	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 (2003)	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 (2003)	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 (2003)	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 (2003)	Craig E. Hou [États-Unis] ; Bradley L. Schlaggar [États-Unis] ; Brad A. Racette [États-Unis]	Dystonia in a patient with ring chromosome 21
002484 (2003)	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 (2003)	Ruth H. Walker [États-Unis] ; P. Shashidharan [États-Unis]	Developments in the molecular biology of DYT1 dystonia
002538 (2003)	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 (2002)	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 (2002)	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 (2002)	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 (2002)	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 (2002)	Thomas D. Bird [États-Unis]	Hereditary benign chorea
002742 (2002)	Katrina Gwinn-Hardy [États-Unis]	Genetics of parkinsonism
002743 (2002)	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 (2002)	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 (2002)	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 (2002)	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 (2002)	Thomas D. Bird [États-Unis]	Familial dyskinesia and facial myokymia

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