Mutation < Mutation (genetics) < Mutation (physiology)

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List of bibliographic references

Number of relevant bibliographic references: 224.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000078 (1999)	O. Joost [États-Unis] ; C A Taylor ; C A Thomas ; L A Cupples ; M H Saint-Hilaire ; R G Feldman ; C T Baldwin ; R H Myers	Absence of effect of seven functional mutations in the CYP2D6 gene in Parkinson's disease.
000577 (2001)	M. Pandolfo [Canada]	Molecular basis of Friedreich ataxia.
000607 (2001)	S. Bostantjopoulou [Grèce] ; Z. Katsarou ; A. Papadimitriou ; V. Veletza ; G. Hatzigeorgiou ; A. Lees	Clinical features of parkinsonian patients with the alpha-synuclein (G209A) mutation.
000620 (2001)	P. Pastor [Espagne] ; E. Mu Oz ; M. Ezquerra ; V. Obach ; M J Martí ; F. Valldeoriola ; E. Tolosa ; R. Oliva	Analysis of the coding and the 5' flanking regions of the alpha-synuclein gene in patients with 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.
000740 (2002)	Giovanna Zorzi [Italie] ; Barbara Garavaglia ; Federica Invernizzi ; Floriano Girotti ; Paola Soliveri ; Massimo Zeviani ; Lucia Angelini ; Nardo Nardocci	Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.
000825 (2002)	Ruey-Meei Wu [République populaire de Chine] ; Din-E Shan ; Chen-Ming Sun ; Ren-Shyan Liu ; Wuh-Liang Hwu ; Chun-Hwei Tai ; Jennifer Hussey ; Andrew West ; Katrina Gwinn-Hardy ; John Hardy ; Judy Chen ; Matt Farrer ; Sarah Lincoln	Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations.
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.
000960 (2002)	Blas Morales ; Armando Martínez ; Isabel Gonzalo ; Lidice Vidal ; Raquel Ros ; Estrella Gomez-Tortosa ; Alberto Rabano ; Israel Ampuero ; Marina Sánchez ; Janet Hoenicka ; Justo García De Yébenes	Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein.
000B49 (2003)	Andrew J. Lees [Royaume-Uni]	Parkinson's syndrome associated with neurofibrillary degeneration and tau pathologic findings.
000B53 (2003)	Andrew Kertesz [Canada]	Pick's complex and FTDP-17.
000D24 (2004)	Dominic C. Paviour [Royaume-Uni] ; Robert A H. Surtees ; Andrew J. Lees	Diagnostic considerations in juvenile parkinsonism.
000D37 (2004)	Johann M. Hagenah [Allemagne] ; Christine Zühlke ; Yorck Hellenbroich ; Wolfgang Heide ; Christine Klein	Focal dystonia as a presenting sign of spinocerebellar ataxia 17.
000D40 (2004)	Jürgen Andrich [Allemagne] ; Carsten Saft ; Anneliese Arz ; Birgit Schneider ; Markus W. Agelink ; Peter H. Kraus ; Wilfried Kuhn ; Thomas Müller	Hyperhomocysteinaemia in treated patients with Huntington's disease homocysteine in HD.
000F10 (2004)	Giovanni Abbruzzese [Italie] ; Simona Pigullo ; Angelo Schenone ; Emilia Bellone ; Roberta Marchese ; Emilio Di Maria ; Luana Benedetti ; Paola Ciotti ; Lucilla Nobbio ; Vincenzo Bonifati ; Franco Ajmar ; Paola Mandich	Does parkin play a role in the peripheral nervous system? A family report.
001428 (2005)	Jose Miguel Bras [Portugal] ; Rita Joao Guerreiro ; Maria Helena Ribeiro ; Cristina Januario ; Ana Morgadinho ; Catarina Resende Oliveira ; Luis Cunha ; John Hardy ; Andrew Singleton	G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.
001557 (2006)	Tsao-Wei Liang [États-Unis] ; Adam C. Truax ; John Q. Trojanowski ; Virginia M-Y Lee ; Matthew B. Stern ; Paul T. Kotzbauer	Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.
001765 (2006)	Andrea Carmine Belin [Suède] ; Marie Westerlund ; Olof Sydow ; Karin Lundströmer ; Anna H Kansson ; Hans Nissbrandt ; Lars Olson ; Dagmar Galter	Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian.
001782 (2006)	Peter Bauer [Allemagne] ; Friedmar R. Kreuz ; Katrin Bürk ; Carsten Saft ; Jürgen Andrich ; Hubert Heilemann ; Olaf Riess ; Ludger Schöls	Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause.
001803 (2006)	Karsten Henkel [Allemagne] ; Adrian Danek ; Jordan Grafman ; John Butman ; Jan Kassubek	Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study.
001814 (2006)	Jens Carsten Möller ; Barbara Leinweber ; Ida Rissling ; Wolfgang Herman Oertel ; Oliver Bandmann ; Hartmut H-J Schmidt	Prevalence of the H1069Q mutation in ATP7B in discordant pairs with early-onset Parkinson's disease.

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