phenotypes < phenotypic < phenotypically

Facettes :

List of bibliographic references indexed by phenotypic

Number of relevant bibliographic references: 35.
[0-20] [0 - 20][0 - 35][20-34][20-40]

Ident.	Authors (with country if any)	Title
000386 (2014)	Gesine Respondek [Allemagne] ; Maria Stamelou ; Carolin Kurz ; Leslie W. Ferguson ; Alexander Rajput ; Wan Zheng Chiu ; John C. Van Swieten ; Claire Troakes ; Safa Al Sarraj ; Ellen Gelpi ; Carles Gaig ; Eduardo Tolosa ; Wolfgang H. Oertel ; Armin Giese ; Sigrun Roeber ; Thomas Arzberger ; Stefan Wagenpfeil ; Günter U. Höglinger	The phenotypic spectrum of progressive supranuclear palsy: a retrospective multicenter study of 100 definite cases.
000396 (2014)	Maria Stamelou [Royaume-Uni] ; Gavin Charlesworth [Royaume-Uni] ; Carla Cordivari [Royaume-Uni] ; Susanne A. Schneider [Royaume-Uni, Allemagne] ; Georg K Gi [Royaume-Uni, Suisse] ; Una-Marie Sheerin [Royaume-Uni] ; Ignacio Rubio-Agusti [Royaume-Uni] ; Amit Batla [Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]	The Phenotypic Spectrum of DYT24 Due to ANO3 Mutations
000403 (2014)	Tetsutaro Ozawa [Japon]	The COQ2 mutations in Japanese multiple system atrophy: impact on the pathogenesis and phenotypic variation.
000479 (2014)	Lucia Ricciardi [Italie] ; Simona Petrucci ; Arianna Guidubaldi ; Tamara Ialongo ; Laura Serra ; Alessandro Ferraris ; Barbara Span ; Marco Bozzali ; Enza Maria Valente ; Anna Rita Bentivoglio	Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.
000842 (2013)	Cathérine C S. Delnooz ; Ron A. Wevers ; Marialuisa Quadri ; Peter T. Clayton ; Philippa B. Mills ; Karin Tuschl ; Eric J. Steenbergen ; Vincenzo Bonifati ; Bart P C. Van De Warrenburg	Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
000A34 (2013)	Miryam Carecchio [Royaume-Uni] ; Monia Magliozzi ; Massimiliano Copetti ; Alessandro Ferraris ; Laura Bernardini ; Monica Bonetti ; Giovanni Defazio ; Mark J. Edwards ; Isabella Torrente ; Fabio Pellegrini ; Cristoforo Comi ; Kailash P. Bhatia ; Enza Maria Valente	Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
000B76 (2012)	Ainhi D. Ha [Australie] ; Kaitlyn L. Parratt ; Nanna D. Rendtorff ; Marianne Lodahl ; Karl Ng ; Dominic B. Rowe ; Carolyn M. Sue ; Michael W. Hayes ; Lisbeth Tranebjaerg ; Victor S C. Fung	The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
000C61 (2012)	Brianada Koentjoro [Australie] ; Jin-Sung Park ; Ainhi Duy Ha ; Carolyn M. Sue	Phenotypic variability of parkin mutations in single kindred.
000F51 (2012)	Ainhi D. Ha [Australie] ; Kaitlyn L. Parratt [Australie] ; Nanna D. Rendtorff [Danemark] ; Marianne Lodahl [Danemark] ; Karl Ng [Australie] ; Dominic B. Rowe [Australie] ; Carolyn M. Sue [Australie] ; Michael W. Hayes [Australie] ; Lisbeth Tranebjaerg [Danemark] ; Victor S. C. Fung [Australie]	The Phenotypic Spectrum of Dystonia in Mohr-Tranebjaerg Syndrome
001027 (2012)	Brianada Koentjoro [Australie] ; Jin-Sung Park [Australie] ; Ainhi Duy Ha [Australie] ; Carolyn M. Sue [Australie]	Phenotypic Variability of parkin Mutations in Single Kindred
001466 (2011)	Alexander Schmidt [Allemagne] ; Hans-Christian Jabusch [Allemagne] ; Eckart Altenmüller [Allemagne] ; Leonie Enders [Allemagne] ; Rachel Saunders-Pullman [États-Unis] ; Susan B. Bressman [États-Unis] ; Alexander Münchau [Allemagne] ; Christine Klein [Allemagne] ; Johann Hagenah [Allemagne]	Phenotypic spectrum of musician's dystonia: A task‐specific disorder?
001C56 (2010)	Sui H. Wong [Royaume-Uni] ; Malcolm J. Steiger [Royaume-Uni] ; Andrew J. Larner [Royaume-Uni] ; Nicholas A. Fletcher [Royaume-Uni]	Hereditary myoclonus dystonia (DYT11): A novel SGCE gene mutation with intrafamilial phenotypic heterogeneity
002288 (2009)	Maria G. Macedo [Pays-Bas] ; Dagmar Verbaan [Pays-Bas] ; Yue Fang [Pays-Bas] ; Stephanie M. Van Rooden [Pays-Bas] ; Martine Visser [Pays-Bas] ; Burcu Anar [Pays-Bas] ; Antonella Uras [Pays-Bas] ; Justus L. Groen [Pays-Bas] ; Patrizia Rizzu [Pays-Bas] ; Jacobus J. Van Hilten [Pays-Bas] ; Peter Heutink [Pays-Bas]	Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease
002304 (2009)	Sarah Teixeira Camargos [Brésil] ; Leonardo Oliveira Dornas [Brésil] ; Parastoo Momeni [États-Unis] ; Andrew Lees (neurologue) [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Andrew Singleton [États-Unis] ; Francisco Cardoso [Brésil]	Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: Phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations
002379 (2009)	Helen Ling [Thaïlande] ; Kanjana Unnwongse [Thaïlande] ; Roongroj Bhidayasiri [Thaïlande]	Complex movement disorders in a sporadic Boucher‐Neuhäuser Syndrome: Phenotypic manifestations beyond the triad
002518 (2009)	Sarah Teixeira Camargos [Brésil] ; Leonardo Oliveira Dornas [Brésil] ; Parastoo Momeni [États-Unis] ; Andrew Lees (neurologue) [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Andrew Singleton [États-Unis] ; Francisco Cardoso [Brésil]	Familial Parkinsonism and Early Onset Parkinson's Disease in a Brazilian Movement Disorders Clinic : Phenotypic Characterization and Frequency of SNCA, PRKN, PINK1, and LRRK2 Mutations
002695 (2008)	Deborah Raymond [États-Unis] ; Rachel Saunders-Pullman [États-Unis] ; Patricia De Carvalho Aguiar [Brésil] ; Birgitt Schule [États-Unis] ; Norman Kock [Allemagne] ; Jennifer Friedman [États-Unis] ; Juliette Harris [États-Unis] ; Blair Ford [États-Unis] ; Steven Frucht [États-Unis] ; Gary A. Heiman [États-Unis] ; Danna Jennings [États-Unis] ; Dana Doheny [États-Unis] ; Mitchell F. Brin [États-Unis] ; Deborah De Leon Brin [États-Unis] ; Trisha Multhaupt-Buell [États-Unis] ; Anthony E. Lang [Canada] ; Roger Kurlan [États-Unis] ; Christine Klein [Allemagne] ; Laurie Ozelius [États-Unis] ; Susan Bressman [États-Unis]	Phenotypic spectrum and sex effects in eleven myoclonus‐dystonia families with ε‐sarcoglycan mutations
002A19 (2008)	Alfonso Fasano [Italie] ; Cesare Colosimo [Italie] ; Hiroaki Miyajima [Japon] ; Pietro Attilio Tonali [Italie] ; Thomas J. Re [Italie] ; Anna Rita Bentivoglio [Italie]	Aceruloplasminemia: A novel mutation in a family with marked phenotypic variability
002C73 (2007)	Ruth H. Walker [États-Unis] ; Hans H. Jung [Suisse] ; François Tison [France] ; Soohee Lee [États-Unis] ; Adrian Danek [Allemagne]	Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
002C74 (2007)	Marcelo Miranda [Chili] ; Claudia Castiglioni [Chili] ; Beat M. Frey [Suisse] ; Martin Hergersberg [Suisse] ; Adrian Danek [Allemagne] ; Hans H. Jung [Suisse]	Phenotypic variability of a distinct deletion in McLeod syndrome
002C75 (2007)	Anja Hiller [Allemagne] ; Johann M. Hagenah [Allemagne] ; Ana Djarmati [Allemagne] ; Katja Hedrich [Allemagne] ; Kathrin Reetz [Allemagne] ; Christiane Schneider-Gold [Allemagne] ; Wolfgang Kress [Allemagne] ; Alexander Münchau [Allemagne] ; Christine Klein [Allemagne]	Phenotypic spectrum of PINK1‐associated parkinsonism in 15 mutation carriers from 1 family

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