Haplorhini < Haplotypes < Hardness

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 47.
[0-20] [0 - 20][0 - 47][20-40]

Ident.	Authors (with country if any)	Title
000091 (1999)	C. Kamm [Allemagne] ; E. Castelon-Konkiewitz ; M. Naumann ; F. Heinen ; M. Brack ; A. Nebe ; A. Ceballos-Baumann ; T. Gasser	GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.
000285 (2000)	J J Higgins [États-Unis] ; K. Kluetzman ; J. Berciano ; O. Combarros ; J M Loveless	Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder.
000350 (2000)	A. Münchau [Royaume-Uni] ; E M Valente ; M B Davis ; V. Stinton ; N W Wood ; N P Quinn ; K P Bhatia	A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia.
000366 (2000)	S N Illarioshkin [Russie] ; I A Ivanova-Smolenskaya ; R A Rahmonov ; E D Markova ; G. Stevanin ; A. Brice	Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan.
000375 (2000)	M. Farrer [États-Unis] ; T. Destée ; E. Becquet ; F. Wavrant-De Vrièze ; V. Mouroux ; F. Richard ; L. Defebvre ; S. Lincoln ; J. Hardy ; P. Amouyel ; M C Chartier-Harlin	Linkage exclusion in French families with probable Parkinson' s disease.
000606 (2001)	A R Bentivoglio [Italie] ; P. Cortelli ; E M Valente ; T. Ialongo ; A. Ferraris ; A. Elia ; P. Montagna ; A. Albanese	Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families.
000799 (2002)	Pau Pastor [Espagne] ; Mario Ezquerra ; Eduardo Tolosa ; Esteban Mu Oz ; María José Martí ; Francesc Valldeoriola ; José Luís Molinuevo ; Matilde Calopa ; Rafael Oliva	Further extension of the H1 haplotype associated with progressive supranuclear palsy.
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.
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.
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.
000A24 (2003)	Marco Onofrj [Italie] ; Anna Lisa Luciano ; Diego Iacono ; Astrid Thomas ; Fabrizio Stocchi ; Franco Papola ; Domenico Adorno ; Rocco Di Mascio	HLA typing does not predict REM sleep behaviour disorder and hallucinations in Parkinson's disease.
000B04 (2003)	Simona Pigullo [Italie] ; Emilio Di Maria ; Roberta Marchese ; Emilia Bellone ; Rossella Gulli ; Cesa Scaglione ; Stella Battaglia ; Paolo Barone ; Paolo Martinelli ; Giovanni Abbruzzese ; Franco Ajmar ; Paola Mandich	Essential tremor is not associated with alpha-synuclein gene haplotypes.
000C18 (2003)	Aida M. Bertoli-Avella [Pays-Bas] ; Jose L. Giroud-Benitez ; Vincenzo Bonifati ; Eduardo Alvarez-Gonzalez ; Luis Heredero-Baute ; Cornelia M. Van Duijn ; Peter Heutink	Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease.
001004 (2004)	Antonino Uncini [Italie] ; Maria Vittoria De Angelis ; Patrizia Di Fulvio ; Michele Ragno ; Grazia Annesi ; Alessandro Filla ; Liborio Stuppia ; Domenico Gambi	Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation.
001017 (2005)	Giovanni Fabbrini [Italie] ; Francesco Brancati ; Laura Vacca ; Enza Maria Valente ; Andrea Nemeth ; Angela Meesaq ; Nuala Sykes ; Bruno Dallapiccola ; Alfredo Berardelli	A novel family with an unusual early-onset generalized dystonia.
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.
001324 (2005)	Daniel G. Healy ; Patrick M. Abou-Sleiman ; Niall Quinn ; Kourosh R. Ahmadi ; Tetsutaro Ozawa ; Christoph Kamm ; Ullrich Wullner ; Wolfgang H. Oertel ; Katrin Burk ; Erik Dupont ; Maria T. Pellecchia ; Eduardo Tolosa ; Thomas Gasser ; Janice L. Holton ; Tamas Revesz ; David B. Goldstein ; Andrew J. Lees ; Nicholas W. Wood	UCHL-1 gene in multiple system atrophy: a haplotype tagging approach.
001355 (2005)	Parastoo Momeni [États-Unis] ; Chin-Song Lu ; Yah-Huei Wu Chou ; Hsiu-Chen Chang ; Rou-Shayn Chen ; Chiung-Chu Chen ; Jin-Tian Hsu ; Andrew Singleton ; John Hardy	Taiwanese cases of SCA2 are derived from a single founder.
001372 (2005)	Tomaso Scaravilli [Italie] ; Eduardo Tolosa ; Isidre Ferrer	Progressive supranuclear palsy and corticobasal degeneration: lumping versus splitting.
001621 (2006)	Liana Fidani [Grèce] ; Kallirhoe Kalinderi ; Sevasti Bostantjopoulou ; Jordi Clarimon ; Antonis Goulas ; Zoe Katsarou ; John Hardy ; Alexandros Kotsis	Association of the Tau haplotype with Parkinson's disease in the Greek population.
001906 (2006)	Hideaki Kobayashi [Japon] ; Hiroshi Ujike ; Junko Hasegawa ; Mitsutoshi Yamamoto ; Akihiro Kanzaki ; Ichiro Sora	Identification of a risk haplotype of the alpha-synuclein gene in Japanese with sporadic Parkinson's disease.

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