Inteins < Intellectual Disability < Intelligence

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 24.
[0-20] [0 - 20][0 - 24][20-23][20-40]

Ident.	Authors (with country if any)	Title
000551 (2001)	T. Perniola [Italie] ; L. Margari ; M G De Iaco ; A. Presicci ; P. Ventura ; E. Ferrannini ; G. Illiceto	Familial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance.
000F18 (1992)	N. Nardocci [Italie] ; B. Bertagnolio ; V. Rumi ; L. Angelini	Progressive dystonia symptomatic of juvenile GM2 gangliosidosis.
000F76 (2004)	Uday Muthane [Inde] ; Yasha Chickabasaviah ; Chris Kaneski ; Susurla K. Shankar ; Gayathri Narayanappa ; Rita Christopher ; Srikanth Subbamma Govindappa	Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.
001761 (2006)	Kana Tojo [Japon] ; Yoshiki Sekijima ; Tamio Suzuki ; Noriyuki Suzuki ; Yasushi Tomita ; Kunihiro Yoshida ; Takao Hashimoto ; Shu-Ichi Ikeda	Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation.
001B89 (2007)	Eiichiro Nagata ; Arifumi Kosakai ; Kortaro Tanaka ; Masaya Segawa ; Hiroki Fujioka ; Haruo Shintaku ; Norihiro Suzuki	Dopa-responsive dystonia (Segawa disease) -like disease accompanied by mental retardation: a case report.
002009 (2008)	Susanne A. Schneider [Royaume-Uni] ; Kailash P. Bhatia	Dystonia in the Woodhouse Sakati syndrome: A new family and literature review.
002085 (2008)	Susanne A. Schneider [Royaume-Uni] ; Mary M. Robertson ; Renata Rizzo ; Jeremy Turk ; Kailash P. Bhatia ; Michael Orth	Fragile X syndrome associated with tic disorders.
002A30 (2010)	P David Charles [États-Unis] ; Chandler E. Gill ; Henry M. Taylor ; Michael S. Putman ; Caralee R. Blair ; Amanda G. Roberts ; Gregory D. Ayers ; Peter E. Konrad	Spasticity treatment facilitates direct care delivery for adults with profound intellectual disability.
003721 (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.
003A43 (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.
003C14 (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.
003C15 (2013)	Thomas Foltynie [Royaume-Uni]	Commentary.
003D13 (2013)	Darius Ebrahimi-Fakhari [Allemagne]	Autophagy and neurodegeneration - genetic findings in SENDA syndrome, a subtype of neurodegeneration with brain iron accumulation, provide a novel link.
003F39 (2014)	Geetanjali S. Rathore [États-Unis] ; Christian P. Schaaf ; Amber J. Stocco	Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.
004204 (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.
004230 (2015)	Andrew Singleton [États-Unis]	X-linked Parkinson's disease.
004615 (1988)	Joseph Jankovic [États-Unis] ; D. Armstrong ; N L Low ; C G Goetz	Case 2, 1988. Congenital mental retardation and juvenile parkinsonism.
004704 (1995)	M F Gordon [États-Unis] ; S. Bressman ; M F Brin ; D. De Leon ; D. Warburton ; K. Yeboa ; S. Fahn	Dystonia in a patient with deletion of 18q.
004859 (1994)	A. Rossi ; B. Decchi ; D. Grossi	On the nature of motor disorders in mentally retarded patients.
004874 (1993)	R E Van Emmerik [Pays-Bas] ; R L Sprague ; K M Newell	Quantification of postural sway patterns in tardive dyskinesia.
004892 (1994)	M. Kyllerman [Suède] ; O H Skjeldal ; M. Lundberg ; I. Holme ; E. Jellum ; U. Von Döbeln ; A. Fossen ; G. Carlsson	Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.

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