Genes, Mitochondrial < Genes, Recessive < Genes, Regulator

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List of bibliographic references indexed by Genes, Recessive

Number of relevant bibliographic references: 26.
[0-20] [0 - 20][0 - 26][20-25][20-40]

Ident.	Authors (with country if any)	Title
000156 (2015)	Franziska Hopfner [Allemagne] ; Susanne A. Schneider [Allemagne]	Mystery surrounding DYT2 dystonia now solved: HPCA mutations identified in DYT2-like family.
000158 (2015)	Kishore Raj Kumar [Australie]	Mutations in hippocalcin and autosomal recessive dystonia: a role for perturbed calcium signaling?
000F11 (2012)	Evelien Zoons ; Ieke B. Ginjaar ; Paul A D. Bouma ; Johannes A. Carpay ; Marina A J. Tijssen	A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene.
002289 (2009)	Ming-Jen Lee [Taïwan] ; Ignacio F. Mata [États-Unis] ; Chin-Hsien Lin [Taïwan] ; Kai-Yuan Tzen [Taïwan] ; Sarah J. Lincoln [États-Unis] ; Rebecca Bounds [États-Unis] ; Paul J. Lockhart [Australie] ; Mary M. Hulihan [États-Unis] ; Matthew J. Farrer [États-Unis] ; Ruey-Meei Wu [Taïwan]	Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism
002336 (2009)	Irene Martinez-Torres [Royaume-Uni] ; Patricia Limousin [Royaume-Uni] ; Steve Tisch [Australie] ; Rupert Page [Royaume-Uni] ; Ashwin Pinto [Royaume-Uni] ; Thomas Foltynie [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Marwan I. Hariz [Royaume-Uni] ; Ludvic Zrinzo [Royaume-Uni]	Early and marked benefit with GPi DBS for Lubag syndrome presenting with rapidly progressive life‐threatening dystonia
002D17 (2007)	Yuhei Takado [Japon] ; Kenju Hara [Japon] ; Takayoshi Shimohata [Japon] ; Susumu Tokiguchi [Japon] ; Osamu Onodera [Japon] ; Masatoyo Nishizawa [Japon]	New mutation in the non‐gigantic exon of SACS in Japanese siblings
002D31 (2007)	Oronzo Scarciolla [Italie] ; Francesco Brancati [Italie] ; Enza Maria Valente [Italie] ; Alessandro Ferraris [Italie] ; Maria Vittoria De Angelis [Italie] ; Stefano Valbonesi [Italie] ; Barbara Garavaglia [Italie] ; Antonino Uncini [Italie] ; Giandomenico Palka [Italie] ; Liborio Stuppia [Italie] ; Bruno Dallapiccola [Italie]	Multiplex ligation‐dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements
003115 (2006)	Graznya Gromadzka [Pologne] ; Harmut H. J. Schmidt [Allemagne] ; Janine Genschel [Allemagne] ; Bettina Bochow [Allemagne] ; M. Rodo [Pologne] ; Beatek Tarnacka [Pologne] ; Thomas Litwin [Pologne] ; Grzegorz Chabik [Pologne] ; Anna Członkowska [Pologne]	p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease
003413 (2006)	Karsten Henkel [Allemagne] ; Adrian Danek [Allemagne, États-Unis] ; Jordan Grafman [États-Unis] ; John Butman [États-Unis] ; Jan Kassubek [Allemagne]	Head of the caudate nucleus is most vulnerable in chorea–acanthocytosis: A voxel‐based morphometry study
003430 (2006)	Nataša T. Dragaševi ; Biljana Uljkovi ; Christine Klein [Allemagne] ; Aleksandar Risti ; Milica Keckarevi ; Ivan Topisirovi ; Slobodanka Vukosavi ; Marina Svetel ; Norman Kock [Allemagne] ; Elka Stefanova ; Stanka Romac ; Vladimir S. Kosti	Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients
003437 (2006)	Antje Mueller [Allemagne] ; Ulrike Reuner [Allemagne] ; Basile Landis [Suisse] ; Hagen Kitzler [Allemagne] ; Heinz Reichmann [Allemagne] ; Thomas Hummel [Allemagne]	Extrapyramidal symptoms in Wilson's disease are associated with olfactory dysfunction
003443 (2006)	Juliane Winkelmann [Allemagne] ; Peter Lichtner [Allemagne] ; Benno Pütz [Allemagne] ; Claudia Trenkwalder [Allemagne] ; Stephanie Hauk [Allemagne] ; Thomas Meitinger [Allemagne] ; Tim Strom [Allemagne] ; Bertram Muller-Myhsok [Allemagne]	Evidence for further genetic locus heterogeneity and confirmation of RLS‐1 in restless legs syndrome
003817 (2005)	Chiara Criscuolo [Italie] ; Francesco Saccà [Italie] ; Giuseppe De Michele [Italie] ; Pietro Mancini [Italie] ; Onofre Combarros [Espagne] ; Jon Infante [Espagne] ; Antonio Garcia [Espagne] ; Sandro Banfi [Italie] ; Alessandro Filla [Italie] ; José Berciano [Espagne]	Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
003A08 (2005)	Paolo Moretti [États-Unis] ; Peter Hedera [États-Unis] ; John Wald [États-Unis] ; John Fink [États-Unis]	Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family
003D40 (2004)	Giovanni Abbruzzese [Italie] ; Simona Pigullo [Italie] ; Angelo Schenone [Italie] ; Emilia Bellone [Italie] ; Roberta Marchese [Italie] ; Emilio Di Maria [Italie] ; Luana Benedetti [Italie] ; Paola Ciotti [Italie] ; Lucilla Nobbio [Italie] ; Vincenzo Bonifati [Pays-Bas, Italie] ; Franco Ajmar [Italie] ; Paola Mandich [Italie]	Does parkin play a role in the peripheral nervous system? A family report
003D46 (2004)	Dominic C. Paviour [Royaume-Uni] ; Robert A. H. Surtees [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni]	Diagnostic considerations in juvenile parkinsonism
003E15 (2004)	Akio Kikuchi [Japon] ; Atsushi Takeda [Japon] ; Kazuo Fujihara [Japon] ; Teiko Kimpara [Japon] ; Yusei Shiga [Japon] ; Hiroaki Tanji [Japon] ; Makiko Nagai [Japon] ; Hiroshi Ichinose [Japon] ; Fumi Urano [Japon] ; Nobuyuki Okamura [Japon] ; Hiroyuki Arai [Japon] ; Yasuto Itoyama [Japon]	Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa‐responsive dystonia with parkinsonism: A case report
004157 (2003)	Saeed Bohlega [Arabie saoudite] ; Adel Al-Jishi [Bahreïn] ; Carol Dobson-Stone [Royaume-Uni] ; Luca Rampoldi [Royaume-Uni, Italie] ; Parthasarathi Saha [Arabie saoudite] ; Hatem Murad [Arabie saoudite] ; Abid Kareem [Arabie saoudite] ; George Roberts [Arabie saoudite] ; Anthony P. Monaco [Royaume-Uni]	Chorea‐acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula
004487 (2002)	Francisco Grandas [Espagne] ; Mercedes Martín-Moro [Espagne] ; Susana Garcia-Mu Ozguren [Espagne] ; Fernando Anaya [Espagne]	Early‐onset parkinsonism in cerebrotendinous xanthomatosis
004724 (2001)	Anna R. Bentivoglio [Italie] ; Pietro Cortelli [Italie] ; Enza M. Valente [Italie] ; Tàmara Ialongo [Italie] ; Alessandro Ferraris [Italie] ; Antonio Elia [Italie] ; Pasquale Montagna [Italie] ; Alberto Albanese [Italie]	Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families
004994 (2000)	Joseph J. Higgins [États-Unis] ; Kerri Kluetzman [États-Unis] ; Jose Berciano [Espagne] ; Onofre Combarros [Espagne] ; Joseph M. Loveless [États-Unis]	Posterior column ataxia and retinitis pigmentosa: A distinct clinical and genetic disorder

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