Chromosome Disorders (metabolism) < Chromosome Mapping < Chromosome Mapping (methods)

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List of bibliographic references

Number of relevant bibliographic references: 37.
[0-20] [0 - 20][0 - 37][20-36][20-40]

Ident.	Authors (with country if any)	Title
000199 (2000)	R L Oliveri [Italie] ; G. Annesi ; M. Zappia ; D. Civitelli ; E V De Marco ; A A Pasqua ; F. Annesi ; P. Spadafora ; A. Gambardella ; G. Nicoletti ; D. Branca ; M. Caracciolo ; U. Aguglia ; A. Quattrone	The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease.
000263 (2000)	K P Bhatia ; R C Griggs ; L J Ptácek	Episodic movement disorders as channelopathies.
000285 (2000)	J J Higgins [États-Unis] ; K. Kluetzman ; J. Berciano ; O. Combarros ; J M Loveless	Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder.
000736 (2002)	Francesco Brancati [Italie] ; Giovanni Defazio ; Viviana Caputo ; Enza Maria Valente ; Antonio Pizzuti ; Paolo Livrea ; Alfredo Berardelli ; Bruno Dallapiccola	Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.
000822 (2002)	Katrina Gwinn-Hardy [États-Unis]	Genetics of parkinsonism.
000831 (2002)	Sian D. Spacey [Royaume-Uni] ; Enza-Maria Valente ; Gurusidheshwar M. Wali ; Thomas T. Warner ; Paul R. Jarman ; Anthony H V. Schapira ; Peter H. Dixon ; Mary B. Davis ; Kailash P. Bhatia ; Nicholas W. Wood	Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.
000930 (2002)	David A. Grimes [Canada] ; J David Grimes ; Lem Racacho ; Kylie A. Scoggan ; Fabin Han ; Betty Anne Schwarz ; John Woulfe ; Dennise Bulman	Large French-Canadian family with Lewy body parkinsonism: exclusion of known loci.
000965 (2002)	David A. Grimes [Canada] ; Fabin Han ; Dennise Bulman ; Mary Lou Nicolson ; Oksana Suchowersky	Hereditary chin trembling: a new family with exclusion of the chromosome 9q13-q21 Locus.
000973 (2003)	Thomas Gasser [Allemagne] ; Susan Bressman ; Alexandra Dürr ; Joseph Higgins ; Thomas Klockgether ; Richard H. Myers	State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.
000A94 (2003)	Marieke Dekker [Pays-Bas] ; Vincenzo Bonifati ; John Van Swieten ; Nico Leenders ; Robert-Jan Galjaard ; Pieter Snijders ; Marten Horstink ; Peter Heutink ; Ben Oostra ; Cornelia Van Duijn	Clinical features and neuroimaging of PARK7-linked parkinsonism.
000C93 (2004)	Alex Desautels [Canada] ; Gustavo Turecki ; Lan Xiong ; Daniel Rochefort ; Jacques Montplaisir ; Guy A. Rouleau	Mutational analysis of neurotensin in familial restless legs syndrome.
000C95 (2004)	Paul J. Lockhart [États-Unis] ; Casey A. O'Farrell ; Matthew J. Farrer	It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).
000D34 (2004)	Anna Rita Bentivoglio [Italie] ; Tamara Ialongo ; M Fiorella Contarino ; Enza M. Valente ; Alberto Albanese	Phenotypic characterization of DYT13 primary torsion dystonia.
001170 (2005)	Claire-Marie Dhaenens [France] ; Pierre Krystkowiak ; Xavier Douay ; Pierre Charpentier ; Sylvain Bele ; Alain Destée [France] ; Bernard Sablonnière	Clinical and genetic evaluation in a French population presenting with primary focal dystonia.
001390 (2005)	Jeong-Hyun Kim [Corée du Sud] ; Yoon-Hee Cho ; Jeong-Kook Kim ; Yong-Gou Park ; Jin Woo Chang	Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea.
001416 (2006)	Juliane Winkelmann [Allemagne] ; Peter Lichtner ; Benno Pütz ; Claudia Trenkwalder ; Stephanie Hauk ; Thomas Meitinger ; Tim Strom ; Bertram Muller-Myhsok	Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.
001427 (2006)	Paola Valentino [Italie] ; Grazia Annesi ; Innocenza C. Cir Candiano ; Ferdinanda Annesi ; Donatella Civitelli ; Patrizia Tarantino ; Francesco Naso ; Patrizia Spadafora ; Sara Carrideo ; Elvira V. De Marco ; Domenico Consoli ; Mario Zappia ; Antonio Gambardella ; Aldo Quattrone	Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.
001445 (2006)	Susanna Adel [Allemagne] ; Ana Djarmati ; Kemal Kabakci ; Irene Pichler ; Cordula Eskelson ; Thora Lohnau ; Norman Kock ; Johann Hagenah ; Katja Hedrich ; Eberhard Schwinger ; Patricia L. Kramer ; Peter P. Pramstaller ; Christine Klein	Co-occurrence of restless legs syndrome and Parkin mutations in two families.
001530 (2006)	Renato P. Munhoz [Brésil] ; Toshitaka Kawarai ; Helio A. Teive ; Salmo Raskin ; Christine Sato ; Yan Liang ; Peter H. St George-Hyslop ; Ekaterina Rogaeva	Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).
001683 (2006)	Florian D. Vogl [Italie] ; Irene Pichler ; Susanna Adel ; Gerd K. Pinggera ; Stefano Bracco ; Alessandro De Grandi ; Claudia Beu Volpato ; Paolo Aridon ; Thomas Mayer ; Thomas Meitinger ; Christine Klein ; Giorgio Casari ; Peter P. Pramstaller	Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate.
001713 (2006)	Shaochun Ma [États-Unis] ; Thomas L. Davis ; Marcia A. Blair ; John Y. Fang ; Yuki Bradford ; Jonathan L. Haines ; Peter Hedera	Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?

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