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Movement Disorders (revue) - Curation (Ncbi)

Index « Keywords » - entrée « Genes, Recessive (genetics) »
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List of bibliographic references

Number of relevant bibliographic references: 13.
Ident.Authors (with country if any)Title
000226 (2000) A. Schrag [Royaume-Uni] ; N P Quinn ; K P Bhatia ; C D MarsdenBenign hereditary chorea--entity or syndrome?
000285 (2000) J J Higgins [États-Unis] ; K. Kluetzman ; J. Berciano ; O. Combarros ; J M LovelessPosterior 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. AlbanesePhenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families.
000A37 (2003) Saeed Bohlega [Arabie saoudite] ; Adel Al-Jishi ; Carol Dobson-Stone ; Luca Rampoldi ; Parthasarathi Saha ; Hatem Murad ; Abid Kareem ; George Roberts ; Anthony P. MonacoChorea-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. LeesDiagnostic 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 ItoyamaArg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
001325 (2005) Chiara Criscuolo [Italie] ; Francesco Saccà ; Giuseppe De Michele ; Pietro Mancini ; Onofre Combarros ; Jon Infante ; Antonio Garcia ; Sandro Banfi ; Alessandro Filla ; José BercianoNovel 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-MyhsokEvidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.
004353 (2015) Kishore Raj Kumar [Australie]Mutations in hippocalcin and autosomal recessive dystonia: a role for perturbed calcium signaling?
004372 (2015) Franziska Hopfner [Allemagne] ; Susanne A. Schneider [Allemagne]Mystery surrounding DYT2 dystonia now solved: HPCA mutations identified in DYT2-like family.
004849 (1994) M F Lew [États-Unis] ; M. Shindo ; C B Moskowitz ; K C Wilhelmsen ; S. Fahn ; C H WatersAdductor laryngeal breathing dystonia in a patient with lubag (X-linked dystonia-Parkinsonism syndrome).
004C79 (1997) E S Simon [États-Unis]Phenotypic heterogeneity and disease course in three murine strains with mutations in genes encoding for alpha 1 and beta glycine receptor subunits.
004F22 (1998) M G Hanna [Royaume-Uni] ; M B Davis ; M G Sweeney ; M. Noursadeghi ; C J Ellis ; P. Elliot ; N W Wood ; C D MarsdenGeneralized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion.

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