phenotype < phenotypes < phenotypic

Facettes :

List of bibliographic references indexed by phenotypes

Number of relevant bibliographic references: 15.

Ident.	Authors (with country if any)	Title
000033 (2015)	Jin-Sung Park [Australie] ; Nicholas F. Blair [Australie] ; Carolyn M. Sue [Australie]	The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.
000175 (2015)	Marialuisa Quadri [Pays-Bas] ; Mahesh Kamate [Inde] ; Suvasini Sharma [Inde] ; Simone Olgiati [Pays-Bas] ; Josja Graafland [Pays-Bas] ; Guido J. Breedveld [Pays-Bas] ; Indu Kori [Inde] ; Virupaxi Hattiholi [Inde] ; Puneet Jain [Inde] ; Satinder Aneja [Inde] ; Atin Kumar [Inde] ; Parveen Gulati [Inde] ; Medha Goel [Inde] ; Bibek Talukdar [Inde] ; Vincenzo Bonifati [Pays-Bas]	Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.
000D53 (2012)	Franziska Maier [Allemagne] ; George P. Prigatano ; Elke Kalbe ; Michael T. Barbe ; Carsten Eggers ; Catharine J. Lewis ; Richard S. Burns ; Jeannine Morrone-Strupinsky ; Guillermo Moguel-Cobos ; Gereon R. Fink ; Lars Timmermann	Impaired self-awareness of motor deficits in Parkinson's disease: association with motor asymmetry and motor phenotypes.
000F66 (2012)	Georgia Xiromerisiou [Royaume-Uni, Grèce] ; Henry Houlden [Royaume-Uni] ; Nikolaos Scarmeas [États-Unis, Grèce] ; Maria Stamelou [Royaume-Uni] ; Eleanna Kara [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni] ; Prasad Korlipara [Royaume-Uni] ; Patricia Limousin [Royaume-Uni] ; Reema Paudel [Royaume-Uni] ; Georgios M. Hadjigeorgiou [Grèce] ; Kailash P. Bhatia [Royaume-Uni]	THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations
001091 (2012)	Franziska Maier [Allemagne] ; George P. Prigatano [États-Unis] ; Elke Kalbe [Allemagne] ; Michael T. Barbe [Allemagne] ; Carsten Eggers [Allemagne] ; Catharine J. Lewis [Allemagne] ; Richard S. Burns [États-Unis] ; Jeannine Morrone-Strupinsky [États-Unis] ; Guillermo Moguel-Cobos [États-Unis] ; Gereon R. Fink [Allemagne] ; Lars Timmermann [Allemagne]	Impaired Self-Awareness of Motor Deficits in Parkinson's Disease: Association With Motor Asymmetry and Motor Phenotypes
001381 (2011)	Arnaud Blanchard [France] ; Agathe Roubertie [France] ; Marion Simonetta-Moreau [France] ; Vuthy Ea [France] ; Coline Coquart [France] ; Melissa Y. Frederic [France] ; Gael Gallouedec [France] ; Jean-Paul Adenis [France] ; Isabelle Benatru [France] ; Michel Borg [France] ; Pierre Burbaud [France] ; Patrick Calvas [France] ; Laura Cif [France] ; Philippe Damier [France] ; Alain Destée [France] ; Laurence Faivre [France] ; Lucie Guyant-Marechal [France] ; Piotr Janik [Pologne] ; Samer Janoura [France] ; Alexandre Kreisler [France] ; Anna Lusakowska [Pologne] ; Sylvie Odent [France] ; Anna Potulska-Chromik [Pologne] ; Monika Rudzi Ska [Pologne] ; Stephane Thobois [France] ; Isabelle Vuillaume [France] ; Christine Tranchant [France] ; Sylvie Tuffery-Giraud [France] ; Philippe Coubes [France] ; Bernard Sablonnière [France] ; Mireille Claustres [France] ; Gwenaelle Collod-Béroud [France]	Singular DYT6 phenotypes in association with new THAP1 frameshift mutations
001598 (2011)	Oswaldo Lorenzo-Betancor [Espagne] ; Lluís Samaranch [Espagne] ; Elena García-Martín [Espagne] ; Sebastián Cervantes [Espagne] ; José A. G. Agúndez [Espagne] ; Félix J. Jiménez-Jiménez [Espagne] ; Hortensia Alonso-Navarro [Espagne] ; Antonio Luengo [Espagne] ; Francisco Coria [Espagne] ; Elena Lorenzo [Espagne] ; Jaione Irigoyen [Espagne] ; Pau Pastor [Espagne]	LINGO1 gene analysis in Parkinson's disease phenotypes
001880 (2011)	Oswaldo Lorenzo-Betancor [Espagne] ; Lluís Samaranch [Espagne] ; Elena Garcia-Martin [Espagne] ; Sebastian Cervantes [Espagne] ; Jose A. G. Agundez [Espagne] ; Félix J. Jimenez-Jimenez [Espagne] ; Hortensia Alonso-Navarro [Espagne] ; Antonio Luengo [Espagne] ; Francisco Coria [Espagne] ; Elena Lorenzo [Espagne] ; Jaione Irigoyen [Espagne] ; Pau Pastor [Espagne]	LING01 Gene Analysis in Parkinson's Disease Phenotypes
001C24 (2010)	Annu Aggarwal [Inde] ; Susanne A. Schneider [Allemagne, Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; Monty Silverdale [Royaume-Uni] ; Reema Paudel [Royaume-Uni] ; Coro Paisan-Ruiz [Royaume-Uni] ; Shrinivas Desai [Inde] ; Mihir Munshi [Inde] ; Darshana Sanghvi [Inde] ; John Hardy [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Mohit Bhatt [Inde]	Indian‐subcontinent NBIA: Unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms
001F78 (2009)	Friedrich Asmus [Allemagne] ; Annette Langseth [Irlande (pays)] ; Elaine Doherty [Irlande (pays)] ; Therese Nestor [Irlande (pays)] ; Marita Munz [Allemagne] ; Thomas Gasser [Allemagne] ; Tim Lynch [Irlande (pays)] ; Mary D. King [Irlande (pays)]	“Jerky” dystonia in children: Spectrum of phenotypes and genetic testing
003429 (2006)	Roberta Marongiu [Italie] ; Daniele Ghezzi [Italie] ; Tamara Ialongo [Italie] ; Francesco Soleti [Italie] ; Antonio Elia [Italie] ; Stefania Cavone [Italie] ; Alberto Albanese [Italie] ; Maria Concetta Altavista [Italie] ; Paolo Barone [Italie] ; Livia Brusa [Italie] ; Pietro Cortelli [Italie] ; Lucia Petrozzi [Italie] ; Cesa Scaglione [Italie] ; Paolo Stanzione [Italie] ; Michele Tinazzi [Italie] ; Massimo Zeviani [Italie] ; Bruno Dallapiccola [Italie] ; Anna Rita Bentivoglio [Italie] ; Enza Maria Valente [Italie] ; Barbara Garavaglia [Italie]	Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease
003575 (2006)	Mattia Gambarin [Italie] ; Enza Maria Valente [Italie] ; Paolo Liberini [Italie] ; Giuseppe Barrano [Italie] ; Alberto Bonizzato [Italie] ; Alessandro Padovani [Italie] ; Giuseppe Moretto [Italie] ; Mirta Fiorio [Italie] ; Bruno Dallapiccola [Italie] ; Nicola Smania [Italie] ; Antonio Fiaschi [Italie] ; Michele Tinazzi [Italie]	Atypical phenotypes and clinical variability in a large Italian family with DYT1–primary torsion dystonia
003E98 (2003)	Mark Edwards [Royaume-Uni] ; Nicholas Wood [Royaume-Uni] ; Kailash Bhatia [Royaume-Uni]	Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature
005C05 (1994)	Adler [États-Unis] ; Lawrence Wrabetz [États-Unis] ; Mitchell F. Brin [États-Unis] ; Howard I. Hurtig [États-Unis]	Cerebellar ataxia, dystonia, and tremor within a family: Variable phenotypes of a single genetic disorder?
005C88 (1994)	C. H. Adler [États-Unis] ; L. Wrabetz ; M. F. Brin ; H. I. Hurtig [États-Unis]	Cerebellar ataxia, dystonia, and tremor within a family: variable phenotypes of a single genetic disorder?

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