Genes, Mitochondrial < Genes, Recessive < Genes, Regulator

Facettes :

List of bibliographic references

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

Ident.	Authors (with country if any)	Title
000226 (2000)	A. Schrag [Royaume-Uni] ; N P Quinn ; K P Bhatia ; C D Marsden	Benign hereditary chorea--entity or syndrome?
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.
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.
000968 (2002)	Francisco Grandas ; Mercedes Martín-Moro ; Susana Garcia-Mu Ozguren ; Fernando Anaya	Early-onset parkinsonism in cerebrotendinous xanthomatosis.
000A37 (2003)	Saeed Bohlega [Arabie saoudite] ; Adel Al-Jishi ; Carol Dobson-Stone ; Luca Rampoldi ; Parthasarathi Saha ; Hatem Murad ; Abid Kareem ; George Roberts ; Anthony P. Monaco	Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.
000D24 (2004)	Dominic C. Paviour [Royaume-Uni] ; Robert A H. Surtees ; Andrew J. Lees	Diagnostic considerations in juvenile parkinsonism.
000E25 (2004)	Akio Kikuchi [Japon] ; Atsushi Takeda ; Kazuo Fujihara ; Teiko Kimpara ; Yusei Shiga ; Hiroaki Tanji ; Makiko Nagai ; Hiroshi Ichinose ; Fumi Urano ; Nobuyuki Okamura ; Hiroyuki Arai ; Yasuto Itoyama	Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
000F10 (2004)	Giovanni Abbruzzese [Italie] ; Simona Pigullo ; Angelo Schenone ; Emilia Bellone ; Roberta Marchese ; Emilio Di Maria ; Luana Benedetti ; Paola Ciotti ; Lucilla Nobbio ; Vincenzo Bonifati ; Franco Ajmar ; Paola Mandich	Does parkin play a role in the peripheral nervous system? A family report.
001049 (2005)	Paolo Moretti [États-Unis] ; Peter Hedera ; John Wald ; John Fink	Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family.
001325 (2005)	Chiara Criscuolo [Italie] ; Francesco Saccà ; Giuseppe De Michele ; Pietro Mancini ; Onofre Combarros ; Jon Infante ; Antonio Garcia ; Sandro Banfi ; Alessandro Filla ; José Berciano	Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
001416 (2006)	Juliane Winkelmann [Allemagne] ; Peter Lichtner ; Benno Pütz ; Claudia Trenkwalder ; Stephanie Hauk ; Thomas Meitinger ; Tim Strom ; Bertram Muller-Myhsok	Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.
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.
001482 (2006)	Graznya Gromadzka [Pologne] ; Harmut H J. Schmidt ; Janine Genschel ; Bettina Bochow ; M. Rodo ; Beatek Tarnacka ; Thomas Litwin ; Grzegorz Chabik ; Anna Członkowska	p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
001731 (2006)	Antje Mueller [Allemagne] ; Ulrike Reuner ; Basile Landis ; Hagen Kitzler ; Heinz Reichmann ; Thomas Hummel	Extrapyramidal symptoms in Wilson's disease are associated with olfactory dysfunction.
001803 (2006)	Karsten Henkel [Allemagne] ; Adrian Danek ; Jordan Grafman ; John Butman ; Jan Kassubek	Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study.
001B06 (2007)	Yuhei Takado ; Kenju Hara ; Takayoshi Shimohata ; Susumu Tokiguchi ; Osamu Onodera ; Masatoyo Nishizawa	New mutation in the non-gigantic exon of SACS in Japanese siblings.
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.
002437 (2009)	Ming-Jen Lee [Taïwan] ; Ignacio F. Mata ; Chin-Hsien Lin ; Kai-Yuan Tzen ; Sarah J. Lincoln ; Rebecca Bounds ; Paul J. Lockhart ; Mary M. Hulihan ; Matthew J. Farrer ; Ruey-Meei Wu	Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism.
002710 (2009)	Irene Martinez-Torres ; Patricia Limousin ; Steve Tisch ; Rupert Page ; Ashwin Pinto ; Thomas Foltynie ; Kailash P. Bhatia ; Marwan I. Hariz ; Ludvic Zrinzo	Early and marked benefit with GPi DBS for Lubag syndrome presenting with rapidly progressive life-threatening dystonia.
003553 (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.
004353 (2015)	Kishore Raj Kumar [Australie]	Mutations in hippocalcin and autosomal recessive dystonia: a role for perturbed calcium signaling?

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