Homovanillic Acid < Homozygote < Hong Kong

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 26.
[0-20] [0 - 20][0 - 26][20-25][20-40]

Ident.	Authors (with country if any)	Title
000330 (2000)	S. Buervenich [Suède] ; O. Sydow ; A. Carmine ; Z. Zhang ; M. Anvret ; L. Olson	Alcohol dehydrogenase alleles in Parkinson's disease.
000341 (2000)	S. Hayashi [Japon] ; K. Wakabayashi ; A. Ishikawa ; H. Nagai ; M. Saito ; M. Maruyama ; T. Takahashi ; T. Ozawa ; S. Tsuji ; H. Takahashi	An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene.
000365 (2000)	M T Dotti [Italie] ; A. Federico ; R. Garuti ; S. Calandra	Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
000402 (2000)	A. Filla [Italie] ; G. De Michele ; G. Coppola ; A. Federico ; G. Vita ; A. Toscano ; A. Uncini ; P. Pisanelli ; P. Barone ; V. Scarano ; A. Perretti ; L. Santoro ; A. Monticelli ; F. Cavalcanti ; G. Caruso ; S. Cocozza	Accuracy of clinical diagnostic criteria for Friedreich's ataxia.
000424 (2001)	H. Ujike [Japon] ; M. Yamamoto ; A. Kanzaki ; K. Okumura ; M. Takaki ; S. Kuroda	Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.
000628 (2001)	D O Mcdaniel [États-Unis] ; B. Keats ; V V Vedanarayanan ; S H Subramony	Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.
000C95 (2004)	Paul J. Lockhart [États-Unis] ; Casey A. O'Farrell ; Matthew J. Farrer	It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).
000E39 (2004)	William C. Nichols [États-Unis] ; Sean K. Uniacke ; Nathan Pankratz ; Terry Reed ; David K. Simon ; Cheryl Halter ; Alice Rudolph ; Clifford W. Shults ; P Michael Conneally ; Tatiana Foroud	Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease.
001031 (2004)	Marianna Capecci [Italie] ; Luca Passamonti ; Ferdinanda Annesi ; Grazia Annesi ; Michele Bellesi ; Innocenza Claudia Cir Candiano ; Riccardo Ricciuti ; Maurizio Iacoangeli ; Massimo Scerrati ; Mario Zappia ; Patrizia Tarantino ; Elvira Valeria De Marco ; Donatella Civitelli ; Sara Carrideo ; Leandro Provinciali ; Maria Gabriella Ceravolo ; Aldo Quattrone	Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene.
001043 (2004)	Katja Hedrich [Allemagne] ; Cordula Eskelson ; Beth Wilmot ; Karen Marder ; Juliette Harris ; Jennifer Garrels ; Helen Meija-Santana ; Peter Vieregge ; Helfried Jacobs ; Susan B. Bressman ; Anthony E. Lang ; Martin Kann ; Giovanni Abbruzzese ; Paolo Martinelli ; Eberhard Schwinger ; Laurie J. Ozelius ; Peter P. Pramstaller ; Christine Klein ; Patricia Kramer	Distribution, type, and origin of Parkin mutations: review and case studies.
001076 (2004)	Amanpreet Badhwar [Canada] ; An Jansen ; Frederick Andermann ; Massimo Pandolfo ; Eva Andermann	Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene.
001415 (2006)	Nathan Pankratz [États-Unis] ; Lisa Byder ; Cheryl Halter ; Alice Rudolph ; Clifford W. Shults ; P Michael Conneally ; Tatiana Foroud ; William C. Nichols	Presence of an APOE4 allele results in significantly earlier onset of Parkinson's disease and a higher risk with dementia.
001482 (2006)	Graznya Gromadzka [Pologne] ; Harmut H J. Schmidt ; Janine Genschel ; Bettina Bochow ; M. Rodo ; Beatek Tarnacka ; Thomas Litwin ; Grzegorz Chabik ; Anna Członkowska	p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
001576 (2006)	Eng-King Tan [Singapour] ; Kenneth Yew ; Eva Chua ; K. Puvan ; Hui Shen ; Esther Lee ; Kim-Yoong Puong ; Yi Zhao ; Ratnagopal Pavanni ; Meng-Cheong Wong ; Dominic Jamora ; Deidre De Silva ; Kyaw-Thu Moe ; Fung-Peng Woon ; Yih Yuen ; Louis Tan	PINK1 mutations in sporadic early-onset Parkinson's disease.
001612 (2006)	Cindy Zadikoff [Canada] ; Ekaterina Rogaeva ; Ana Djarmati ; Christine Sato ; Shabnam Salehi-Rad ; Peter St George-Hyslop ; Christine Klein ; Anthony E. Lang	Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.
001691 (2006)	Chiara Criscuolo [Italie] ; Giampiero Volpe ; Anna De Rosa ; Andrea Varrone ; Roberta Marongiu ; Pietro Mancini ; Elena Salvatore ; Bruno Dallapiccola ; Alessandro Filla ; Enza Maria Valente ; Giuseppe De Michele	PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.
001770 (2006)	Toshiaki Takahashi [Japon] ; Masashi Aoki ; Takashi Imai ; Masaru Yoshioka ; Hidehiko Konno ; Shuichi Higano ; Yoshiaki Onodera ; Hiroshi Saito ; Itaru Kimura ; Yasuto Itoyama	A case of dysferlinopathy presenting choreic movements.
001873 (2006)	Hui-Fang Shang [République populaire de Chine] ; Xiao-Feng Jiang ; Jean-Marc Burgunder ; Qin Chen ; Dong Zhou	Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus.
001B06 (2007)	Yuhei Takado ; Kenju Hara ; Takayoshi Shimohata ; Susumu Tokiguchi ; Osamu Onodera ; Masatoyo Nishizawa	New mutation in the non-gigantic exon of SACS in Japanese siblings.
002038 (2008)	Ebba Lohmann [France] ; Marie-Laure Welter ; Valérie Fraix ; Paul Krack ; Suzanne Lesage ; Sophie Laine ; Marie-Laure Tanguy ; Jean-Luc Houeto ; Valérie Mesnage ; Pierre Pollak ; Alexandra Durr ; Yves Agid [France] ; Alexis Brice	Are parkin patients particularly suited for deep-brain stimulation?
002042 (2008)	Mona Ragothaman ; Uday Muthane	Homozygous SCA 2 mutations changes phenotype and hastens progression.

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