Heterozygote < Heterozygote Detection < Hexanes (adverse effects)

Facettes :

List of bibliographic references

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

Ident.	Authors (with country if any)	Title
000282 (2000)	E H Aylward [États-Unis] ; A M Codori ; A. Rosenblatt ; M. Sherr ; J. Brandt ; O C Stine ; P E Barta ; G D Pearlson ; C A Ross	Rate of caudate atrophy in presymptomatic and symptomatic stages of Huntington's disease.
000571 (2001)	C. Klein ; G S Stewart ; N P Quinn ; A M Taylor	Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder.
000727 (2002)	Puneet Opal [États-Unis] ; Ron Tintner ; Joseph Jankovic [États-Unis] ; Joanne Leung ; Xandra O. Breakefield ; Jennifer Friedman ; Laurie Ozelius	Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm.
000850 (2002)	Marina A J. Tijssen [Pays-Bas] ; Monique N. Vergouwe ; J Gert Van Dijk ; Michelle Rees ; Rune R. Frants ; Peter Brown	Major and minor form of hereditary hyperekplexia.
000859 (2002)	Spiridon Papapetropoulos ; Christos Paschalis ; John Ellul ; Thodoros Papapetropoulos ; Aglaia Athanassiadou	Survival duration of Parkinson's disease patients living in Greece who carry the G209A alpha-synuclein mutation.
000939 (2002)	Virgilio Gerald H. Evidente [États-Unis] ; Joel Advincula ; Raymund Esteban ; Paul Pasco ; Jhoe Anthony Alfon ; Filipinas F. Natividad ; Joven Cuanang ; Amado San Luis ; Katrina Gwinn-Hardy ; John Hardy ; Dena Hernandez ; Andrew Singleton	Phenomenology of "Lubag" or X-linked dystonia-parkinsonism.
000944 (2002)	Pauline L. Lee [États-Unis] ; Terri Gelbart ; Carol West ; Carol Halloran ; Jack C. Sipe ; Ernest Beutler	Polymorphisms in iron-responsive binding protein 2 and lack of association with sporadic Parkinson's disease.
000A94 (2003)	Marieke Dekker [Pays-Bas] ; Vincenzo Bonifati ; John Van Swieten ; Nico Leenders ; Robert-Jan Galjaard ; Pieter Snijders ; Marten Horstink ; Peter Heutink ; Ben Oostra ; Cornelia Van Duijn	Clinical features and neuroimaging of PARK7-linked parkinsonism.
000A95 (2003)	Louis C. Tan [États-Unis] ; Caroline M. Tanner ; Rong Chen ; Piu Chan ; Matthew Farrer ; John Hardy ; J William Langston	Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation.
000C88 (2004)	Ying-Zu Huang [Royaume-Uni] ; Mark J. Edwards ; Kailash P. Bhatia ; John C. Rothwell	One-Hz repetitive transcranial magnetic stimulation of the premotor cortex alters reciprocal inhibition in DYT1 dystonia.
000C91 (2004)	Paola Costa-Mallen [États-Unis] ; Zahra Afsharinejad ; Samir N. Kelada ; Lucio G. Costa ; Gary M. Franklin ; Phillip D. Swanson ; W T Longstreth ; Hannah-Malia A. Viernes ; Federico M. Farin ; Terri Smith-Weller ; Harvey Checkoway	DNA sequence analysis of monoamine oxidase B gene coding and promoter regions in Parkinson's disease cases and unrelated controls.
000C97 (2004)	Susan Hollán [Hongrie] ; Lászl Vécsei ; Kálmán Magyar	Adverse effects of dopamine potentiation by long-term treatment with selegiline.
000D02 (2004)	José Martin Rabey	Explanatory note.
000F51 (2004)	Din-E Shan [République populaire de Chine] ; Ren-Shyan Liu ; Chen-Ming Sun ; Shwn-Jen Lee ; Kwong-Kum Liao ; Bing-Wen Soong	Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: clinical implications.
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.
001424 (2006)	Jennifer R L. Friedman [États-Unis] ; Elizabeth A. Thiele ; Dong Wang ; Kara B. Levine ; Erin K. Cloherty ; Heidi H. Pfeifer ; Darryl C. De Vivo ; Anthony Carruthers ; Marvin R. Natowicz	Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.
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.
001485 (2006)	Daniela Perani ; Valentina Garibotto ; George M. Hadjigeorgiou ; Dimitra Papadimitriou ; Ferruccio Fazio ; Alexandros Papadimitriou	Positron emission tomography changes in PARK1 mutation.
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.
001586 (2006)	David A. Grimes [Canada] ; Fabin Han ; Michel Panisset ; Lemuel Racacho ; Fengxia Xiao ; Ruobing Zou ; Kelly Westaff ; Dennis E. Bulman	Translated mutation in the Nurr1 gene as a cause for 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.

---

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/KwdEn.i -k "Heterozygote Detection" 

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/KwdEn.i  \
                -Sk "Heterozygote Detection" \
         | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd 

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Ncbi
   |étape=   Curation
   |type=    indexItem
   |index=    KwdEn.i
   |clé=    Heterozygote Detection
}}

---

This area was generated with Dilib version V0.6.23. Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024