families < family < far

Facettes :

List of bibliographic references indexed by family

Number of relevant bibliographic references: 114.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000090 (2015)	Matthew J. Barrett [États-Unis] ; Nicholas E. Hac ; Guofen Yan ; Madaline B. Harrison ; G Frederick Wooten	Relationship of age of onset and family history in Parkinson disease.
000147 (2015)	Roberto Ceravolo [Italie] ; Angelo Antonini ; Daniela Frosini [Italie] ; Angela De Iuliis [Italie] ; Luca Weis ; Diego Cecchin [Italie] ; Michela Tosetti [Italie] ; Ubaldo Bonuccelli [Italie] ; Mirco Cosottini [Italie]	Nigral anatomy and striatal denervation in genetic Parkinsonism: A family report.
000156 (2015)	Franziska Hopfner [Allemagne] ; Susanne A. Schneider [Allemagne]	Mystery surrounding DYT2 dystonia now solved: HPCA mutations identified in DYT2-like family.
000167 (2015)	Dahlia Kancheva [Belgique] ; Teodora Chamova [Bulgarie] ; Velina Guergueltcheva [Bulgarie] ; Vanio Mitev [Bulgarie] ; Dimitar N. Azmanov [Australie] ; Luba Kalaydjieva [Australie] ; Ivailo Tournev [Bulgarie] ; Albena Jordanova [Belgique]	Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
000231 (2015)	Ismael Huertas-Fernández [Espagne] ; Pilar G Mez-Garre [Espagne] ; Marcos Madruga-Garrido [Espagne] ; Inmaculada Bernal-Bernal [Espagne] ; Marta Bonilla-Toribio [Espagne] ; Juan Francisco Martín-Rodríguez [Espagne] ; María Teresa Cáceres-Redondo [Espagne] ; Laura Vargas-González [Espagne] ; Fátima Carrillo [Espagne] ; Alberto Pascual [Espagne] ; Jay A. Tischfield [États-Unis] ; Robert A. King [États-Unis] ; Gary A. Heiman [États-Unis] ; Pablo Mir [Espagne]	GDNF gene is associated with tourette syndrome in a family study.
000444 (2014)	Jean-Marc Trocello [France] ; Souleiman El Balkhi ; France Woimant ; Nadège Girardot-Tinant ; Philippe Chappuis ; Carla Lloyd ; Joël Poupon	Relative exchangeable copper: a promising tool for family screening in Wilson disease.
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.
000842 (2013)	Cathérine C S. Delnooz ; Ron A. Wevers ; Marialuisa Quadri ; Peter T. Clayton ; Philippa B. Mills ; Karin Tuschl ; Eric J. Steenbergen ; Vincenzo Bonifati ; Bart P C. Van De Warrenburg	Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
000D95 (2012)	Anne Weissbach [Allemagne] ; 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.
000E64 (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.
000E76 (2012)	Ignacio Rubio-Agusti [Royaume-Uni] ; Maja Kojovic ; Mark J. Edwards ; Elaine Murphy ; Hoskote S. Chandrashekar ; Robin H. Lachmann ; Kailash P. Bhatia	Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.
000F11 (2012)	Evelien Zoons ; Ieke B. Ginjaar ; Paul A D. Bouma ; Johannes A. Carpay ; Marina A J. Tijssen	A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene.
000F13 (2012)	Stella Gagliardi ; Annalisa Davin ; Ivana Ricca ; Gaetano S. Grieco ; Roberta Zangaglia ; Francesco Pierelli ; Andrea Ghiroldi ; Claudio Pacchetti ; Carlo Casali ; Cristina Cereda	A new GLUT-1 mutation in a family with glucose transporter 1 deficiency syndrome.
000F23 (2012)	Ji Sun Kim [Corée du Sud] ; Jin Whan Cho ; Hyeeun Shin ; Won Yong Lee ; Chang-Seok Ki ; Ah Ra Cho ; Hee-Tae Kim	A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity.
000F29 (2012)	Maja Kojovic [Royaume-Uni] ; Una-Marie Sheerin [Royaume-Uni] ; Ignacio Rubio-Agusti [Royaume-Uni] ; Anirban Saha [Royaume-Uni] ; Jose Bras [Royaume-Uni] ; Vaneesha Gibbons [Royaume-Uni] ; Rodger Palmer [Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]	Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family
001125 (2012)	Anne Weissbach [Allemagne] ; Katharina Siegesmund [Allemagne] ; Norbert Bruggemann [Allemagne] ; Alexander Schmidt [Allemagne] ; Meike Kasten [Allemagne] ; Irene Pichler [Allemagne] ; Hiltrud Muhle [Allemagne] ; Ebba Lohmann [Turquie] ; Thora Lohnau [Allemagne] ; Eberhard Schwinger [Allemagne] ; Johann Hagenah [Allemagne] ; Ulrich Stephani [Allemagne] ; Peter P. Pramstaller [Allemagne] ; Christine Klein [Allemagne] ; Katja Lohmann [Allemagne]	Exome Sequencing in a Family With Restless Legs Syndrome
001200 (2012)	Ignacio Rubio-Agusti [Royaume-Uni, Espagne] ; Maja Kojovic [Royaume-Uni] ; Mark J. Edwards [Royaume-Uni] ; Elaine Murphy [Royaume-Uni] ; Hoskote S. Chandrashekar [Royaume-Uni] ; Robin H. Lachmann [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]	Atypical Parkinsonism and Cerebrotendinous Xanthomatosis: Report of a Family With Corticobasal Syndrome and a Literature Review
001232 (2012)	Evelien Zoons [Pays-Bas] ; Ieke B. Ginjaar [Pays-Bas] ; Paul A. D. Bouma [Pays-Bas] ; Johannes A. Carpay [Pays-Bas] ; Marina A. J. Tijssen [Pays-Bas]	A New Hyperekplexia Family with a Recessive Frameshift Mutation in the GLRA1 Gene
001233 (2012)	Stella Gagliardi [Italie] ; Annalisa Davin [Italie] ; Ivana Ricca [Italie] ; Gaetano S. Grieco [Italie] ; Roberta Zangaglia [Italie] ; Francesco Pierelli [Italie] ; Andrea Ghiroldi [Italie] ; Claudio Pacchetti [Italie] ; Carlo Casali [Italie] ; Christina Cereda [Italie]	A New GLUT-1 Mutation in a Family with Glucose Transporter 1 Deficiency Syndrome
001236 (2012)	JI SUN KIM [Corée du Sud] ; JIN WHAN CHO [Corée du Sud] ; Hyeeun Shin [Corée du Sud] ; WON YONG LEE [Corée du Sud] ; Chang-Seok Ki [Corée du Sud] ; AH RA CHO [Corée du Sud] ; Hee-Tae Kim [Corée du Sud]	A Korean Parkinson's Disease Family with the LRRK2 p.Tyr1699Cys Mutation Showing Clinical Heterogeneity
001273 (2011)	Robert A. Wilcox [Australie] ; Susen Winkler [Allemagne] ; Katja Lohmann [Allemagne] ; Christine Klein [Allemagne]	Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal

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