Movement Disorders (revue) - Checkpoint (Ncbi)

Index « Mesh.i » - entrée « Pedigree »
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Pediatrics < Pedigree < Pedunculopontine Tegmental Nucleus  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 196.
[0-20] [0 - 20][0 - 50][20-40]
Ident.Authors (with country if any)Title
000087 (1999) S. Nagamitsu [Japon] ; T. Matsuishi ; K. Hashimoto ; Y. Yamashita ; M. Aihara ; K. Shimizu ; M. Mizuguchi ; H. Iwamoto ; S. Saitoh ; Y. Hirano ; H. Kato ; Y. Fukuyama ; M. ShimadaMulticenter study of paroxysmal dyskinesias in Japan--clinical and pedigree analysis.
000126 (1999) E. Cassetta [Italie] ; N. Del Grosso ; A R Bentivoglio ; E M Valente ; M. Frontali ; A. AlbaneseItalian family with cranial cervical dystonia: clinical and genetic study.
000127 (1999) A H Németh [Royaume-Uni] ; K R Mills ; J S Elston ; A. Williams ; E. Dunne ; N M HymanDo the same genes predispose to Gilles de la Tourette syndrome and dystonia? Report of a new family and review of the literature.
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.
000300 (2000) P R Jarman [Royaume-Uni] ; K P Bhatia ; C. Davie ; S J Heales ; N. Turjanski ; S D Taylor-Robinson ; C D Marsden ; N W WoodParoxysmal dystonic choreoathetosis: clinical features and investigation of pathophysiology in a large family.
000341 (2000) S. Hayashi [Japon] ; K. Wakabayashi ; A. Ishikawa ; H. Nagai ; M. Saito ; M. Maruyama ; T. Takahashi ; T. Ozawa ; S. Tsuji ; H. TakahashiAn autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene.
000350 (2000) A. Münchau [Royaume-Uni] ; E M Valente ; M B Davis ; V. Stinton ; N W Wood ; N P Quinn ; K P BhatiaA Yorkshire family with adult-onset cranio-cervical primary torsion dystonia.
000358 (2000) A. Destée [France] ; I. Delalande ; I. Vuillaume ; S. Schraen-Maschke ; L. Defebvre ; B. SablonnièreThe first identified French family with dentatorubral-pallidoluysian atrophy.
000366 (2000) S N Illarioshkin [Russie] ; I A Ivanova-Smolenskaya ; R A Rahmonov ; E D Markova ; G. Stevanin ; A. BriceClinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan.
000375 (2000) M. Farrer [États-Unis] ; T. Destée ; E. Becquet ; F. Wavrant-De Vrièze ; V. Mouroux ; F. Richard ; L. Defebvre ; S. Lincoln ; J. Hardy ; P. Amouyel ; M C Chartier-HarlinLinkage exclusion in French families with probable Parkinson' s disease.
000398 (2000) C. Kamm [Allemagne] ; M. Naumann ; J. Mueller ; N. Mai ; L. Riedel ; J. Wissel ; T. GasserThe DYT1 GAG deletion is infrequent in sporadic and familial writer' s cramp.
000423 (2001) D A Grimes [Canada] ; D. Bulman ; P S George-Hyslop ; A E LangInherited myoclonus-dystonia: evidence supporting genetic heterogeneity.
000437 (2001) C S Lu [Taïwan] ; J C Wu ; C H Tsai ; R S Chen ; Y H Chou ; N. Hattori ; H. Yoshino ; Y. MizunoClinical and genetic studies on familial parkinsonism: the first report on a parkin gene mutation in a Taiwanese family.
000482 (2001) C G Goetz [États-Unis] ; T A Chmura ; D J LanskaHistory of tic disorders and Gilles de la Tourette syndrome: part 5 of the MDS-sponsored history of movement disorders exhibit, Barcelona, June 2000.
000489 (2001) J. Hoenicka [Espagne] ; L. Vidal ; M. Godoy ; J J Ochoa ; J. García De YébenesNew nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism.
000549 (2001) S. Wunderlich [Allemagne] ; K. Reiners ; T. Gasser ; M. NaumannCervical dystonia in monozygotic twins: case report and review of the literature.
000551 (2001) T. Perniola [Italie] ; L. Margari ; M G De Iaco ; A. Presicci ; P. Ventura ; E. Ferrannini ; G. IllicetoFamilial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance.
000566 (2001) E M Gatto [Argentine] ; M M Pardal ; R C Reisin ; A M PardalPlaying harp, another unusual task-specific dystonia.
000594 (2001) P J Hand [Australie] ; R J Gardner ; M A Knight ; S M Forrest ; E. StoreyClinical features of a large Australian pedigree with episodic ataxia type 1.
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.
000620 (2001) P. Pastor [Espagne] ; E. Mu Oz ; M. Ezquerra ; V. Obach ; M J Martí ; F. Valldeoriola ; E. Tolosa ; R. OlivaAnalysis of the coding and the 5' flanking regions of the alpha-synuclein gene in patients with Parkinson's disease.

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