Genetic Heterogeneity < Genetic Linkage < Genetic Loci

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 47.
[0-20] [0 - 20][0 - 47][20-40]

Ident.	Authors (with country if any)	Title
000021 (1999)	M. Fukuda [Japon] ; O. Hashimoto ; S. Nagakubo ; A. Hata	A family with an atonic variant of paroxysmal kinesigenic choreoathetosis and hypercalcitoninemia.
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.
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.
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.
000366 (2000)	S N Illarioshkin [Russie] ; I A Ivanova-Smolenskaya ; R A Rahmonov ; E D Markova ; G. Stevanin ; A. Brice	Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan.
000375 (2000)	M. Farrer [États-Unis] ; T. Destée ; E. Becquet ; F. Wavrant-De Vrièze ; V. Mouroux ; F. Richard ; L. Defebvre ; S. Lincoln ; J. Hardy ; P. Amouyel ; M C Chartier-Harlin	Linkage exclusion in French families with probable Parkinson' s disease.
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.
000423 (2001)	D A Grimes [Canada] ; D. Bulman ; P S George-Hyslop ; A E Lang	Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.
000517 (2001)	S. Bohlega [Arabie saoudite] ; A. Al-Tahan ; M. Kambouris ; M. Divakaran	Neurodegenerative Huntington-like disorder.
000557 (2001)	Z K Wszolek [États-Unis] ; R H Kardon ; E C Wolters ; R F Pfeiffer	Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): PPND family. A longitudinal videotape demonstration.
000585 (2001)	A. Danek [Allemagne] ; F. Tison ; J. Rubio ; M. Oechsner ; W. Kalckreuth ; A P Monaco	The chorea of McLeod syndrome.
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.
000A04 (2003)	Giovanni Defazio [Italie] ; Francesco Brancati ; Enza Maria Valente ; Viviana Caputo ; Antonio Pizzuti ; Davide Martino ; Giovanni Abbruzzese ; Paolo Livrea ; Alfredo Berardelli ; Bruno Dallapiccola	Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.
000C18 (2003)	Aida M. Bertoli-Avella [Pays-Bas] ; Jose L. Giroud-Benitez ; Vincenzo Bonifati ; Eduardo Alvarez-Gonzalez ; Luis Heredero-Baute ; Cornelia M. Van Duijn ; Peter Heutink	Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease.
000E38 (2004)	Anthony P. Nicholas [États-Unis] ; Elizabeth O'Hearn ; Susan E. Holmes ; Dung-Tsa Chen ; Russell L. Margolis	Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation.
000E83 (2004)	Christoph Kamm [États-Unis] ; Joanne Leung ; Soni Joseph ; William B. Dobyns ; Alison Brashear ; Xandra O. Breakefield ; Laurie J. Ozelius	Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
001024 (2004)	Jacek Zaremba [Pologne] ; Hanna Mierzewska ; Zofia Lysiak ; Patricia Kramer ; Laurie J. Ozelius ; Allison Brashear	Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.
001271 (2005)	Katja Hedrich [Allemagne] ; Peter P. Pramstaller ; Katrin Stübke ; Anja Hiller ; Kemal Kabakci ; Sabine Purmann ; Meike Kasten ; Cesa Scaglione ; Eberhard Schwinger ; Jens Volkmann ; Vladimir Kostic ; Peter Vieregge ; Paolo Martinelli ; Giovanni Abbruzzese ; Christine Klein ; Christine Zühlke	Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
001295 (2005)	Maher A. Noureddine [États-Unis] ; Yi-Ju Li ; Joelle M. Van Der Walt ; Robert Walters ; Rita M. Jewett ; Hong Xu ; Tianyuan Wang ; Jeffrey W. Walter ; Burton L. Scott ; Christine Hulette ; Don Schmechel ; Judith E. Stenger ; Fred Dietrich ; Jeffery M. Vance ; Michael A. Hauser	Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra.
001A28 (2007)	Kristoffer Haugarvoll [États-Unis] ; Mathias Toft ; Owen A. Ross ; Jeremy T. Stone ; Michael G. Heckman ; Linda R. White ; Timothy Lynch ; John Mark Gibson ; Zbigniew K. Wszolek ; Ryan J. Uitti ; Jan O. Aasly ; Matthew J. Farrer	ELAVL4, PARK10, and the Celts.
001C90 (2007)	Juliane Winkelmann [Allemagne] ; Oli Polo ; Federica Provini ; Sonja Nevsimalova ; David Kemlink ; Karel Sonka ; Birgit Högl ; Werner Poewe [Autriche] ; Karin Stiasny-Kolster ; Wolfgang Oertel ; Al De Weerd ; Luigi Ferini Strambi ; Marco Zucconi ; Peter P. Pramstaller ; Isabelle Arnulf ; Claudia Trenkwalder ; Christine Klein ; Georgios M. Hadjigeorgiou ; Svenja Happe ; David Rye ; Pasquale Montagna	Genetics of restless legs syndrome (RLS): State-of-the-art and future directions.

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