Intellectual Disability (etiology) < Intellectual Disability (genetics) < Intellectual Disability (pathology)

Facettes :

List of bibliographic references indexed by Intellectual Disability (genetics)

Number of relevant bibliographic references: 13.

Ident.	Authors (with country if any)	Title
000005 (2015)	Andrew Singleton [États-Unis]	X-linked Parkinson's disease.
000354 (2015)	Janel O. Johnson [Royaume-Uni] ; Giovanni Stevanin ; Joyce Van De Leemput ; Dena G. Hernandez ; Sampath Arepalli ; Sylvie Forlani ; Reza Zonozi ; J Raphael Gibbs ; Alexis Brice ; Alexandra Durr ; Andrew B. Singleton	A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
000494 (2014)	Geetanjali S. Rathore [États-Unis] ; Christian P. Schaaf ; Amber J. Stocco	Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.
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.
000822 (2013)	Laura Cif [France] ; Victoria Gonzalez ; Sara Garcia-Ptacek ; Syril James ; Julien Boetto ; Anne Seychelles ; Thomas Roujeau ; Ana Maria Moura De Ribeiro ; Martine Sillon ; Michel Mondain ; Philippe Coubes	Progressive dystonia in Mohr-Tranebjaerg syndrome with cochlear implant and deep brain stimulation.
000B76 (2012)	Ainhi D. Ha [Australie] ; Kaitlyn L. Parratt ; Nanna D. Rendtorff ; Marianne Lodahl ; Karl Ng ; Dominic B. Rowe ; Carolyn M. Sue ; Michael W. Hayes ; Lisbeth Tranebjaerg ; Victor S C. Fung	The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
002835 (2008)	Susanne A. Schneider [Royaume-Uni] ; Mary M. Robertson [Royaume-Uni] ; Renata Rizzo [Italie] ; Jeremy Turk [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Michael Orth [Royaume-Uni, Allemagne]	Fragile X syndrome associated with tic disorders
003472 (2006)	Kana Tojo [Japon] ; Yoshiki Sekijima [Japon] ; Tamio Suzuki [Japon] ; Noriyuki Suzuki [Japon] ; Yasushi Tomita [Japon] ; Kunihiro Yoshida [Japon] ; Takao Hashimoto [Japon] ; Shu-Ichi Ikeda [Japon]	Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation
003D71 (2004)	Uday Muthane [Inde] ; Yasha Chickabasaviah [Inde] ; Chris Kaneski [États-Unis] ; Susurla K. Shankar [Inde] ; Gayathri Narayanappa [Inde] ; Rita Christopher [Inde] ; Srikanth Subbamma Govindappa [Inde]	Clinical features of adult GM1 gangliosidosis: Report of three Indian patients and review of 40 cases
004803 (2001)	T. Perniola [Italie] ; L. Margari [Italie] ; M. G. De Iaco [Italie] ; A. Presicci [Italie] ; P. Ventura [Italie] ; E. Ferrannini [Italie] ; G. Illiceto [Italie]	Familial paroxysmal exercise‐induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance
005912 (1995)	Gordon [États-Unis] ; Susan Bressman [États-Unis] ; Mitchell F. Brin [États-Unis] ; Deborah De Leon [États-Unis] ; Dorothy Warburton [États-Unis] ; Kwame Yeboa [États-Unis] ; Stanley Fahn [États-Unis]	Dystonia in a patient with deletion of 18q
005B90 (1994)	Kyllerman [Suède] ; O. H. Skjeldal [Norvège] ; M. Lundberg [Suède] ; I. Holme [Suède] ; E. Jellum [Norvège] ; U. Von Döbeln [Suède] ; A. Fossen [Norvège] ; G. Carlsson [Suède]	Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations
005F38 (1992)	Nardocci [Italie] ; Barbara Bertagnolio [Italie] ; Viviana Rumi [Italie] ; Lucia Angelini [Italie]	Progressive dystonia symptomatic of juvenile GM2 gangliosidosis

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