Heterozygote < Heterozygote Detection < Hexane derivatives

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List of bibliographic references indexed by Heterozygote Detection

Number of relevant bibliographic references: 46.
[0-20] [0 - 20][0 - 46][20-40]

Ident.	Authors (with country if any)	Title
001346 (2011)	Kai Michael Kauther [Allemagne] ; Christine Höft [Allemagne] ; Ida Rissling [Allemagne] ; Wolfgang H. Oertel [Allemagne] ; Jens Carsten Möller [Allemagne, Suisse]	The PLA2G6 gene in early‐onset Parkinson's disease
001636 (2011)	María Sierra [Espagne] ; Isabel González-Aramburu [Espagne] ; Pascual Sánchez-Juan [Espagne] ; Coro Sánchez-Quintana [Espagne] ; José Miguel Polo [Espagne] ; José Berciano [Espagne] ; Onofre Combarros [Espagne] ; Jon Infante [Espagne]	High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain)
002627 (2008)	Ashwini K. Rao [États-Unis] ; Lisa Muratori [États-Unis] ; Elan D. Louis [États-Unis] ; Carol B. Moskowitz [États-Unis] ; Karen S. Marder [États-Unis]	Spectrum of gait impairments in presymptomatic and symptomatic Huntington's disease
002813 (2008)	Qin Chen [République populaire de Chine] ; Xue-Ping Chen [République populaire de Chine] ; Ling Zou [République populaire de Chine] ; Dong Zhou [République populaire de Chine] ; Qi-Yong Gong [République populaire de Chine, Royaume-Uni] ; Jean-Marc Burgunder [République populaire de Chine, Suisse] ; Hui-Fang Shang [République populaire de Chine]	High brain iron level in asymptomatic carriers of heterozygous ceruloplasmin gene mutations
002D49 (2007)	Karin Van Der Hiele [Pays-Bas] ; Caroline K. Jurgens [Pays-Bas] ; Alla A. Vein [Pays-Bas] ; Robert H. A. M. Reijntjes [Pays-Bas] ; Marie-Noëlle W. Witjes-Ané [Pays-Bas] ; Raymund A. C. Roos [Pays-Bas] ; Gert Van Dijk [Pays-Bas] ; Huub A. M. Middelkoop [Pays-Bas]	Memory activation reveals abnormal EEG in preclinical Huntington's disease
002F44 (2007)	Eng-King Tan [Singapour] ; Stephanie Fook-Chong [Singapour] ; Zhao Yi [Singapour]	Comparing LRRK2 Gly2385Arg carriers with noncarriers
003115 (2006)	Graznya Gromadzka [Pologne] ; Harmut H. J. Schmidt [Allemagne] ; Janine Genschel [Allemagne] ; Bettina Bochow [Allemagne] ; M. Rodo [Pologne] ; Beatek Tarnacka [Pologne] ; Thomas Litwin [Pologne] ; Grzegorz Chabik [Pologne] ; Anna Członkowska [Pologne]	p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease
003144 (2006)	David A. Grimes [Canada] ; Fabin Han [Canada] ; Michel Panisset [Canada] ; Lemuel Racacho [Canada] ; Fengxia Xiao [Canada] ; Ruobing Zou [Canada] ; Kelly Westaff [Canada] ; Dennis E. Bulman [Canada]	Translated mutation in the Nurr1 gene as a cause for Parkinson's disease
003220 (2006)	Katja Hedrich [Allemagne] ; Susen Winkler [Allemagne] ; Johann Hagenah [Allemagne] ; Kemal Kabakci [Allemagne] ; Meike Kasten [Allemagne] ; Eberhard Schwinger [Allemagne] ; Jens Volkmann [Allemagne] ; Peter P. Pramstaller [Italie] ; Vladimir Kostic [Yougoslavie] ; Peter Vieregge [Allemagne] ; Christine Klein [Allemagne]	Recurrent LRRK2 (Park8) mutations in early‐onset Parkinson's disease
003254 (2006)	Nathan Pankratz [États-Unis] ; Lisa Byder [États-Unis] ; Cheryl Halter [États-Unis] ; Alice Rudolph [États-Unis] ; Clifford W. Shults [États-Unis] ; P. Michael Conneally [États-Unis] ; Tatiana Foroud [États-Unis] ; William C. Nichols [États-Unis]	Presence of an APOE4 allele results in significantly earlier onset of Parkinson's disease and a higher risk with dementia
003270 (2006)	Daniela Perani [Italie] ; Valentina Garibotto [Italie] ; George M. Hadjigeorgiou [Grèce] ; Dimitra Papadimitriou [Grèce] ; Ferruccio Fazio [Italie] ; Alexandros Papadimitriou [Grèce]	Positron emission tomography changes in PARK1 mutation
003296 (2006)	Eng-King Tan [Singapour] ; Kenneth Yew [Singapour] ; Eva Chua [Singapour] ; K. Puvan [Singapour] ; Hui Shen [Singapour] ; Esther Lee [Singapour] ; Kim-Yoong Puong [Singapour] ; Yi Zhao [Singapour] ; Ratnagopal Pavanni [Singapour] ; Meng-Cheong Wong [Singapour] ; Dominic Jamora [Singapour] ; Deidre De Silva [Singapour] ; Kyaw-Thu Moe [Singapour] ; Fung-Peng Woon [Singapour] ; Yih Yuen [Singapour] ; Louis Tan [Singapour]	PINK1 mutations in sporadic early‐onset Parkinson's disease
003308 (2006)	Satoshi Kaneko [Japon] ; Toshitaka Kawarai [Canada] ; Edwin Yip [Canada] ; Shabnam Salehi-Rad [Canada] ; Christine Sato [Canada] ; Antonio Orlacchio [Italie] ; Giorgio Bernardi [Italie] ; Yan Liang [Canada] ; Hiroshi Hasegawa [Canada] ; Ekaterina Rogaeva [Canada] ; Peter St George-Hyslop [Canada]	Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
003362 (2006)	Andrea Carmine Belin [Suède] ; Marie Westerlund [Suède] ; Olof Sydow [Suède] ; Karin Lundströmer [Suède] ; Anna H Kansson [Suède] ; Hans Nissbrandt [Suède] ; Lars Olson [Suède] ; Dagmar Galter [Suède]	Leucine‐rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian
003399 (2006)	Cindy Zadikoff [Canada] ; Ekaterina Rogaeva [Canada] ; Ana Djarmati [Allemagne] ; Christine Sato [Canada] ; Shabnam Salehi-Rad [Canada] ; Peter St. George-Hyslop [Canada] ; Christine Klein [Canada, Allemagne] ; Anthony E. Lang [Canada]	Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients
003404 (2006)	Ana Djarmati [Allemagne, Serbie] ; Katja Hedrich [Allemagne] ; Marina Svetel [Serbie] ; Thora Lohnau [Allemagne] ; Eberhard Schwinger [Allemagne] ; Stanka Romac [Serbie] ; Peter P. Pramstaller [Italie] ; Vladimir Kosti [Serbie] ; Christine Klein [Allemagne]	Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?
003429 (2006)	Roberta Marongiu [Italie] ; Daniele Ghezzi [Italie] ; Tamara Ialongo [Italie] ; Francesco Soleti [Italie] ; Antonio Elia [Italie] ; Stefania Cavone [Italie] ; Alberto Albanese [Italie] ; Maria Concetta Altavista [Italie] ; Paolo Barone [Italie] ; Livia Brusa [Italie] ; Pietro Cortelli [Italie] ; Lucia Petrozzi [Italie] ; Cesa Scaglione [Italie] ; Paolo Stanzione [Italie] ; Michele Tinazzi [Italie] ; Massimo Zeviani [Italie] ; Bruno Dallapiccola [Italie] ; Anna Rita Bentivoglio [Italie] ; Enza Maria Valente [Italie] ; Barbara Garavaglia [Italie]	Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease
003433 (2006)	Shaochun Ma [États-Unis] ; Thomas L. Davis [États-Unis] ; Marcia A. Blair [États-Unis] ; John Y. Fang [États-Unis] ; Yuki Bradford [États-Unis] ; Jonathan L. Haines [États-Unis] ; Peter Hedera [États-Unis]	Familial essential tremor with apparent autosomal dominant inheritance: Should we also consider other inheritance modes?
003472 (2006)	Kana Tojo [Japon] ; Yoshiki Sekijima [Japon] ; Tamio Suzuki [Japon] ; Noriyuki Suzuki [Japon] ; Yasushi Tomita [Japon] ; Kunihiro Yoshida [Japon] ; Takao Hashimoto [Japon] ; Shu-Ichi Ikeda [Japon]	Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation
003545 (2006)	Theodora Gioltzoglou [Grèce] ; Ioannis Milonas [Grèce] ; Andrew Lees (neurologue) [Royaume-Uni]	Case of DYT1 dystonia triggered by bite from a moray
003575 (2006)	Mattia Gambarin [Italie] ; Enza Maria Valente [Italie] ; Paolo Liberini [Italie] ; Giuseppe Barrano [Italie] ; Alberto Bonizzato [Italie] ; Alessandro Padovani [Italie] ; Giuseppe Moretto [Italie] ; Mirta Fiorio [Italie] ; Bruno Dallapiccola [Italie] ; Nicola Smania [Italie] ; Antonio Fiaschi [Italie] ; Michele Tinazzi [Italie]	Atypical phenotypes and clinical variability in a large Italian family with DYT1–primary torsion dystonia

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