Family Characteristics < Family Health < Family Leave

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List of bibliographic references indexed by Family Health

Number of relevant bibliographic references: 135.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000085 (2015)	Michael Zech [Allemagne] ; Florian Castrop [Allemagne] ; Bernhard Haslinger [Allemagne] ; Juliane Winkelmann [Allemagne]	Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.
000140 (2015)	Patricia De Carvalho Aguiar [Brésil] ; Vanderci Borges [Brésil] ; Henrique Ballalai Ferraz [Brésil] ; Laurie Jean Ozelius [États-Unis]	Novel compound heterozygous mutations in PRKRA cause pure dystonia.
000365 (2014)	Shiguo Liu [République populaire de Chine] ; Jiajia Cui ; Xinhua Zhang ; Weifeng Wu ; Haitao Niu ; Xu Ma ; Hongmei Xu ; Mingji Yi	Variable number tandem repeats in dopamine receptor D4 in Tourette's syndrome.
000560 (2014)	Rachel Saunders-Pullman [États-Unis] ; Tania Fuchs [États-Unis] ; Marta San Luciano [États-Unis] ; Deborah Raymond [États-Unis] ; Alison Brashear [États-Unis] ; Robert Ortega [États-Unis] ; Andres Deik [États-Unis] ; Laurie J. Ozelius [États-Unis] ; Susan B. Bressman [États-Unis]	Heterogeneity in primary dystonia: lessons from THAP1, GNAL and TOR1A in Amish-Mennonites
000611 (2014)	Michael Zech [Allemagne] ; Florian Castrop ; Barbara Schormair ; Angela Jochim ; Thomas Wieland ; Nadine Gross ; Peter Lichtner ; Annette Peters ; Christian Gieger ; Thomas Meitinger ; Tim M. Strom ; Konrad Oexle ; Bernhard Haslinger ; Juliane Winkelmann	DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
000638 (2014)	Silke Appel-Cresswell [Canada] ; Ali H. Rajput ; Vesna Sossi ; Christina Thompson ; Vanessa Silva ; Jessamyn Mckenzie ; Katherine Dinelle ; Siobhan E. Mccormick ; Carles Vilari O-Güell ; A Jon Stoessl ; Dennis W. Dickson ; Chris A. Robinson ; Matthew J. Farrer ; Alex Rajput	Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.
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.
000866 (2013)	Chang-He Shi ; Shi-Lei Sun ; Jun-Ling Wang ; Ai-Qin Liu ; Wang Miao ; Chandra Avinash ; Xiao Mao ; Bei-Sha Tang ; Yu-Ming Xu	PRRT2 gene mutations in familial and sporadic paroxysmal kinesigenic dyskinesia cases.
000882 (2013)	Lingyan Ma [République populaire de Chine] ; Rongrong Chen ; Lin Wang ; Yingmai Yang ; Xinhua Wan	No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families.
000893 (2013)	Yves Denoyer ; France Woimant ; Muriel Bost ; Gilles Edan ; Sophie Drapier	Neurological Wilson's disease lethal for the son, asymptomatic in the father.
000899 (2013)	Michael C. Kruer [États-Unis] ; Tyler N. Jepperson ; Jill M. Weimer ; Amy Mroch ; Laura Davis-Keppen ; Patricia Crotwell ; Jillian Parboosingh	Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency.
000946 (2013)	Wassilios G. Meissner [France] ; Marie Fernet ; Jérôme Couturier ; Janet Hall ; Anthony Laugé ; Patrick Henry ; Dominique Stoppa-Lyonnet ; François Tison	Isolated generalized dystonia in biallelic missense mutations of the ATM gene.
000988 (2013)	Maria Stamelou [Allemagne] ; Giovanni Cossu ; Mark J. Edwards ; Daniela Murgia ; Isabel Pareés ; Maurizio Melis ; Kailash P. Bhatia	Familial psychogenic movement disorders.
000A44 (2013)	Jan Raethjen [Allemagne] ; Muthuraman Muthuraman ; Achim Kostka ; Martin Nahrwold ; Helge Hellriegel ; Delia Lorenz ; Günther Deuschl	Corticomuscular coherence in asymptomatic first-degree relatives of patients with essential tremor.
000B37 (2013)	Kaori Itokawa [Japon] ; Takeshi Sekine ; Manabu Funayama ; Hiroyuki Tomiyama ; Miki Fukui ; Toshimasa Yamamoto ; Naotoshi Tamura ; Hiroshi Matsuda ; Nobutaka Hattori ; Nobuo Araki	A case of α-synuclein gene duplication presenting with head-shaking movements.
000B59 (2012)	Maya Ando [Japon] ; Manabu Funayama ; Yuanzhe Li ; Kenichi Kashihara ; Yoshitake Murakami ; Nobutaka Ishizu ; Chizuko Toyoda ; Katsuhiko Noguchi ; Takashi Hashimoto ; Naoki Nakano ; Ryogen Sasaki ; Yasumasa Kokubo ; Shigeki Kuzuhara ; Kotaro Ogaki ; Chikara Yamashita ; Hiroyo Yoshino ; Taku Hatano ; Hiroyuki Tomiyama ; Nobutaka Hattori	VPS35 mutation in Japanese patients with typical Parkinson's disease.
000B61 (2012)	Edoardo Ferlazzo ; Sara Gasparini ; Antonio Gambardella ; Angelo Labate ; Vittoria Cianci ; Andrea Cherubini ; Pierluigi Lanza ; Aldo Quattrone ; Umberto Aguglia	Unilateral basal ganglia atrophy in a patient with tuberous sclerosis complex and hemichorea.
000C61 (2012)	Brianada Koentjoro [Australie] ; Jin-Sung Park ; Ainhi Duy Ha ; Carolyn M. Sue	Phenotypic variability of parkin mutations in single kindred.
000D32 (2012)	Oswaldo Lorenzo-Betancor [Espagne] ; Lluís Samaranch ; Mario Ezquerra ; Eduardo Tolosa ; Elena Lorenzo ; Jaione Irigoyen ; Carles Gaig ; María A. Pastor ; Alexandra I. Soto-Ortolaza ; Owen A. Ross ; María C. Rodríguez-Oroz ; Francesc Valldeoriola ; María J. Martí ; María R. Luquin ; Jordi Perez-Tur ; Juan A. Burguera ; José A. Obeso ; Pau Pastor	LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.
000D72 (2012)	Jessie Theuns [Belgique] ; David Crosiers ; Luc Debaene ; Karen Nuytemans ; Bram Meeus ; Kristel Sleegers ; Dirk Goossens ; Ellen Corsmit ; Ellen Elinck ; Karin Peeters ; Maria Mattheijssens ; Barbara Pickut ; Jurgen Del-Favero ; Sebastiaan Engelborghs ; Peter Paul De Deyn ; Patrick Cras ; Christine Van Broeckhoven	Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.
000D82 (2012)	Ariane Choumert ; Alice Poisson ; Jérôme Honnorat ; Isabelle Le Ber ; Agnes Camuzat ; Emmanuel Broussolle ; Stéphane Thobois	G303V tau mutation presenting with progressive supranuclear palsy-like features.

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