Genetic Diseases, X-Linked (therapy) < Genetic Heterogeneity < Genetic Linkage

Facettes :

List of bibliographic references indexed by Genetic Heterogeneity

Number of relevant bibliographic references: 15.

Ident.	Authors (with country if any)	Title
000261 (2015)	Brent L. Fogel [États-Unis] ; Sonya M. Hanson ; Esther B E. Becker	Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?
000727 (2013)	Maja Kojovic [Royaume-Uni] ; Isabel Pareés ; Tania Lampreia ; Karolina Pienczk-Reclawowicz ; Georgia Xiromerisiou ; Ignacio Rubio-Agusti ; Milica Kramberger ; Miryam Carecchio ; Anas M. Alazami ; Francesco Brancati ; Jaroslaw Slawek ; Zvezdan Pirtosek ; Enza Maria Valente ; Fowzan S. Alkuraya ; Mark J. Edwards ; Kailash P. Bhatia	The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
000D76 (2012)	Ruth H. Walker [États-Unis] ; Vincent P. Schulz ; Irina R. Tikhonova ; Milind C. Mahajan ; Shrikant Mane ; Maritza Arroyo Muniz ; Patrick G. Gallagher	Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.
001B00 (2010)	Anne Weissbach [Allemagne] ; Ana Djarmati [Allemagne] ; Christine Klein [Allemagne] ; Nataša Dragaševi [Serbie] ; Christine Zühlke [Allemagne] ; Aleksandar Rakovi [Allemagne] ; Miodrag Gužvi [Allemagne, Serbie] ; Elisabeth Butz [Allemagne] ; Holger Tönnies [Allemagne] ; Reiner Siebert [Allemagne] ; Igor Petrovi [Serbie] ; Marina Svetel [Serbie] ; Vladimir S. Kosti [Serbie] ; Katja Lohmann [Allemagne]	Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15
001C56 (2010)	Sui H. Wong [Royaume-Uni] ; Malcolm J. Steiger [Royaume-Uni] ; Andrew J. Larner [Royaume-Uni] ; Nicholas A. Fletcher [Royaume-Uni]	Hereditary myoclonus dystonia (DYT11): A novel SGCE gene mutation with intrafamilial phenotypic heterogeneity
002296 (2009)	Susanne A. Schneider [Royaume-Uni] ; Coro Paisan-Ruiz [Royaume-Uni] ; Ines Garcia-Gorostiaga [Royaume-Uni, Espagne] ; Niall P. Quinn [Royaume-Uni] ; Yvonne G. Weber ; Holger Lerche [Allemagne] ; John Hardy [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]	GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias
002439 (2009)	Anastasia Levchenko [Canada] ; Jacques-Yves Montplaisir [Canada] ; Géraldine Asselin [Canada] ; Sylvie Provost [Canada] ; Simon L. Girard [Canada] ; Lan Xiong [Canada] ; Emmanuelle Lemyre [Canada] ; Judith St-Onge [Canada] ; Pascale Thibodeau [Canada] ; Alex Desautels [Canada] ; Gustavo Turecki [Canada] ; Claudia Gaspar [Canada] ; Marie-Pierre Dubé [Canada] ; Guy A. Rouleau [Canada]	Autosomal‐dominant locus for restless legs syndrome in French‐Canadians on chromosome 16p12.1
003059 (2007)	Giovanni Fabbrini [Italie] ; Massimo Pasquini [Italie] ; Cinzia Aurilia [Italie] ; Isabella Berardelli [Italie] ; Guido Breedveld [Pays-Bas] ; Ben A. Oostra [Pays-Bas] ; Vincenzo Bonifati [Pays-Bas] ; Alfredo Berardelli [Italie]	A large Italian family with Gilles de la Tourette syndrome: Clinical study and analysis of the SLITRK1 gene
003424 (2006)	Paola Valentino [Italie] ; Grazia Annesi [Italie] ; Innocenza C. Cir Candiano [Italie] ; Ferdinanda Annesi [Italie] ; Donatella Civitelli [Italie] ; Patrizia Tarantino [Italie] ; Francesco Naso [Italie] ; Patrizia Spadafora [Italie] ; Sara Carrideo [Italie] ; Elvira V. De Marco [Italie] ; Domenico Consoli [Italie] ; Mario Zappia [Italie] ; Antonio Gambardella [Italie] ; Aldo Quattrone [Italie]	Genetic heterogeneity in patients with pantothenate kinase–associated neurodegeneration and classic magnetic resonance imaging eye‐of‐the‐tiger pattern
003443 (2006)	Juliane Winkelmann [Allemagne] ; Peter Lichtner [Allemagne] ; Benno Pütz [Allemagne] ; Claudia Trenkwalder [Allemagne] ; Stephanie Hauk [Allemagne] ; Thomas Meitinger [Allemagne] ; Tim Strom [Allemagne] ; Bertram Muller-Myhsok [Allemagne]	Evidence for further genetic locus heterogeneity and confirmation of RLS‐1 in restless legs syndrome
003C28 (2004)	Joseph Wiley [Irlande (pays)] ; Timothy Lynch [Irlande (pays)] ; Sarah Lincoln [États-Unis] ; Lisa Skipper [États-Unis] ; Mary Hulihan [États-Unis] ; David Gosal [Irlande (pays)] ; Gina Bisceglio [États-Unis] ; Jennifer Kachergus [États-Unis] ; John Hardy [États-Unis] ; Matthew J. Farrer [États-Unis]	Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations
003D70 (2004)	Madhavi Thomas [États-Unis] ; Susan J. Hayflick [États-Unis] ; Joseph Jankovic [États-Unis]	Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden‐Spatz syndrome) and pantothenate kinase‐associated neurodegeneration
004179 (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 ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneity
004370 (2002)	Francesco Brancati [Italie] ; Giovanni Defazio [Italie] ; Viviana Caputo [Italie] ; Enza Maria Valente [Italie, Royaume-Uni] ; Antonio Pizzuti [Italie] ; Paolo Livrea [Italie] ; Alfredo Berardelli [Italie] ; Bruno Dallapiccola [Italie]	Novel Italian family supports clinical and genetic heterogeneity of primary adult‐onset torsion dystonia
004445 (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

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