Genes (genetics) < Genes, Dominant < Genes, Dominant (genetics)

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List of bibliographic references

Number of relevant bibliographic references: 28.
[0-20] [0 - 20][0 - 28][20-27][20-40]

Ident.	Authors (with country if any)	Title
000736 (2002)	Francesco Brancati [Italie] ; Giovanni Defazio ; Viviana Caputo ; Enza Maria Valente ; Antonio Pizzuti ; Paolo Livrea ; Alfredo Berardelli ; Bruno Dallapiccola	Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.
000787 (2002)	Peter C G. Nijssen [Pays-Bas] ; Esther Brusse ; Antonius C M. Leyten ; J J Martin ; Johannes L J M. Teepen ; Raymund A C. Roos	Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction.
000930 (2002)	David A. Grimes [Canada] ; J David Grimes ; Lem Racacho ; Kylie A. Scoggan ; Fabin Han ; Betty Anne Schwarz ; John Woulfe ; Dennise Bulman	Large French-Canadian family with Lewy body parkinsonism: exclusion of known loci.
001431 (2006)	Natasa T. Dragasevi ; Biljana Culjkovi ; Christine Klein ; Aleksandar Risti ; Milica Keckarevi ; Ivan Topisirovi ; Slobodanka Vukosavi ; Marina Svetel ; Norman Kock ; Elka Stefanova ; Stanka Romac ; Vladimir S. Kosti	Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients.
001445 (2006)	Susanna Adel [Allemagne] ; Ana Djarmati ; Kemal Kabakci ; Irene Pichler ; Cordula Eskelson ; Thora Lohnau ; Norman Kock ; Johann Hagenah ; Katja Hedrich ; Eberhard Schwinger ; Patricia L. Kramer ; Peter P. Pramstaller ; Christine Klein	Co-occurrence of restless legs syndrome and Parkin mutations in two families.
001485 (2006)	Daniela Perani ; Valentina Garibotto ; George M. Hadjigeorgiou ; Dimitra Papadimitriou ; Ferruccio Fazio ; Alexandros Papadimitriou	Positron emission tomography changes in PARK1 mutation.
001713 (2006)	Shaochun Ma [États-Unis] ; Thomas L. Davis ; Marcia A. Blair ; John Y. Fang ; Yuki Bradford ; Jonathan L. Haines ; Peter Hedera	Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?
001772 (2006)	Sylvia M. Boesch [Autriche] ; Birgit Frauscher ; Elisabeth Brandauer ; Gregor K. Wenning ; Birgit Högl ; Werner Poewe [Autriche]	Disturbance of rapid eye movement sleep in spinocerebellar ataxia type 2.
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.
001B03 (2007)	Claudia Cagnoli ; Alessandro Brussino ; Eleonora Di Gregorio ; Alfredo Brusco ; Giovanni Stevanin ; Alexandra Durr ; Alexis Brice	The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.
001B22 (2007)	Hiroaki Nozaki [Japon] ; Takeshi Ikeuchi ; Akio Kawakami ; Akio Kimura ; Reiji Koide ; Miyuki Tsuchiya ; Yuusaku Nakmura ; Tatsuro Mutoh ; Hiroko Yamamoto ; Naoki Nakao ; Ko Sahashi ; Masatoyo Nishizawa ; Osamu Onodera	Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.
001B64 (2007)	Elisa Alonso [Mexique] ; Leticia Martínez-Ruano ; Irene De Biase ; Christopher Mader ; Adriana Ochoa ; Petra Yescas ; Roxana Gutiérrez ; Misti White ; Luís Ruano ; Marcela Fragoso-Benítez ; Tetsuo Ashizawa ; Sanjay I. Bidichandani ; Astrid Rasmussen	Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.
001E35 (2007)	Anelyssa D'Abreu [Brésil] ; Marcondes Franca ; Iscia Lopes-Cendes ; Fernando Cendes	The international cooperative ataxia rating scale in Machado-Joseph disease. Comparison with the unified multiple system atrophy rating scale.
001E60 (2007)	Oronzo Scarciolla [Italie] ; Francesco Brancati ; Enza Maria Valente ; Alessandro Ferraris ; Maria Vittoria De Angelis ; Stefano Valbonesi ; Barbara Garavaglia ; Antonino Uncini ; Giandomenico Palka ; Liborio Stuppia ; Bruno Dallapiccola	Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.
002041 (2008)	Jan-Philipp Bach ; Norbert Sommer ; Jens Carsten Möller ; Wolfgang H. Oertel ; Richard Dodel ; Thomas Gasser	Parkinson's syndrome in a young patient with Klinefelter's syndrome--a case report.
002044 (2008)	Emmanuel Roze ; Emmanuelle Apartis ; Jean-Marc Trocello	Cortical excitability in DYT-11 positive myoclonus dystonia.
002168 (2008)	Joong-Seok Kim ; Jae-Young An ; Kwang-Soo Lee ; Yong-An Chung ; Jin-Soo Choi ; Kwon-Haeng Lee	PET evidence of cerebellar hypometabolism in a patient with familial episodic ataxia-myokymia syndrome.
002388 (2009)	Anastasia Levchenko [Canada] ; Jacques-Yves Montplaisir ; Géraldine Asselin ; Sylvie Provost ; Simon L. Girard ; Lan Xiong ; Emmanuelle Lemyre ; Judith St-Onge ; Pascale Thibodeau ; Alex Desautels ; Gustavo Turecki ; Claudia Gaspar ; Marie-Pierre Dubé ; Guy A. Rouleau	Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1.
002411 (2009)	Fenna Phibbs [États-Unis] ; John Y. Fang ; Michael K. Cooper ; David P. Charles ; Thomas L. Davis ; Peter Hedera	Prevalence of unilateral tremor in autosomal dominant essential tremor.
002428 (2009)	Jason P. Covy [États-Unis] ; Wuxing Yuan [États-Unis] ; Elisa A. Waxman [États-Unis] ; Howard I. Hurtig [États-Unis] ; Vivianna M. Van Deerlin [États-Unis] ; Benoit I. Giasson [États-Unis]	Clinical and Pathological Characteristics of Patients with Leucine-Rich Repeat Kinase-2 Mutations
004642 (1986)	R E Burke [États-Unis] ; M F Brin ; S. Fahn ; S B Bressman ; C. Moskowitz	Analysis of the clinical course of non-Jewish, autosomal dominant torsion dystonia.

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