Family Characteristics < Family Health < Family Leave

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List of bibliographic references

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

Ident.	Authors (with country if any)	Title
000180 (2015)	Michael Zech ; Florian Castrop ; Bernhard Haslinger ; Juliane Winkelmann	Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.
000247 (2015)	Patricia De Carvalho Aguiar ; Vanderci Borges ; Henrique Ballalai Ferraz ; Laurie Jean Ozelius	Novel compound heterozygous mutations in PRKRA cause pure dystonia.
000376 (2014)	Shiguo Liu ; 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.
000399 (2014)	Silke Appel-Cresswell ; 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.
000419 (2014)	Michael Zech ; 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.
000588 (2014)	Rachel Saunders-Pullman ; Tania Fuchs ; Marta San Luciano ; Deborah Raymond ; Alison Brashear ; Robert Ortega ; Andres Deik ; Laurie J. Ozelius ; Susan B. Bressman	Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.
000858 (2013)	Michael C. Kruer ; 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.
000861 (2013)	Lingyan Ma ; Rongrong Chen ; Lin Wang ; Yingmai Yang ; Xinhua Wan	No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families.
000904 (2013)	Jan Raethjen ; Muthuraman Muthuraman ; Achim Kostka ; Martin Nahrwold ; Helge Hellriegel ; Delia Lorenz ; Günther Deuschl	Corticomuscular coherence in asymptomatic first-degree relatives of patients with essential tremor.
000924 (2013)	Wassilios G. Meissner ; 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.
000955 (2013)	Maria Stamelou ; Giovanni Cossu ; Mark J. Edwards ; Daniela Murgia ; Isabel Pareés ; Maurizio Melis ; Kailash P. Bhatia	Familial psychogenic movement disorders.
000A05 (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.
000A38 (2013)	Maja Kojovic ; 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.
000A90 (2013)	Yves Denoyer ; France Woimant ; Muriel Bost ; Gilles Edan ; Sophie Drapier	Neurological Wilson's disease lethal for the son, asymptomatic in the father.
000B53 (2012)	Anne Weissbach ; Katharina Siegesmund ; Norbert Brüggemann ; Alexander Schmidt ; Meike Kasten ; Irene Pichler ; Hiltrud Muhle ; Ebba Lohmann ; Thora Lohnau ; Eberhard Schwinger ; Johann Hagenah ; Ulrich Stephani ; Peter P. Pramstaller ; Christine Klein ; Katja Lohmann	Exome sequencing in a family with restless legs syndrome.
000B79 (2013)	Kaori Itokawa ; 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.
000C42 (2012)	Maya Ando ; 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.
000C46 (2012)	Jessie Theuns ; 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.
000C94 (2012)	Ryosuke Miyamoto ; Etsuro Ohta ; Toshitaka Kawarai ; Hidetaka Koizumi ; Wataru Sako ; Yuishin Izumi ; Fumiya Obata ; Ryuji Kaji	Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion.
000C98 (2012)	Brianada Koentjoro ; Jin-Sung Park ; Ainhi Duy Ha ; Carolyn M. Sue	Phenotypic variability of parkin mutations in single kindred.
000F15 (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.

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