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1 . Academic Journal
A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease
저자
by
Claire-Marie Dhaenens
;
Sylvie Burnouf
;
Clémence Simonin
;
Edwige Van Brussel
;
Alain Duhamel
, et al.
소스
Neurobiology of Disease, Vol 35, Iss 3, Pp 474-476 (2009)
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7 .
Identification of genetic variants associated with Huntington's disease progression
저자
by
Davina J Hensman Moss
;
Antonio F Pardiñas
;
Douglas Langbehn
;
Kitty Lo
;
Blair R Leavitt
, et al.
소스
The Lancet Neurology, 16(9), 701-711. Lancet Publishing Group
BASE-Bielefeld Academic Search Engine
The Lancet Neurology, 16(9), 701-711
The Lancet Neurology
The Lancet Neurology, Elsevier, 2017, 16, pp.701-711
Moss, D J H, Tabrizi, S J, Mead, S, Lo, K, Pardiñas, A F, Holmans, P, Jones, L, Langbehn, D, Leavitt, B R, Roos, R, Durr, A, Durr, A, TRACK-HD investigators & REGISTRY investigators† 2017, ' Identification of genetic variants associated with Huntington's disease progression : a genome-wide association study ', The Lancet Neurology, vol. 16, no. 9, pp. 701-711 . https://doi.org/10.1016/S1474-4422(17)30161-8
The Lancet Neurology, 2017, 16 (9), pp.701-711. ⟨10.1016/S1474-4422(17)30161-8⟩
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7 .
Hemolysis interferences on frequently required stat analysis: a French multicentric study
저자
by
Christine Morin
;
Catherine Alibeu
;
Sandrine Ngo-François
;
Valery Bourbonneux
;
Isabelle Vuillaume
, et al.
소스
Annales de biologie clinique
. 73:705-716
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7 .
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in theTITF1/NKX2-1gene
저자
by
Marilyn Tallot
;
Ralph Epaud
;
Marie Vidailhet
;
Thierry Billette de Villemeur
;
Agnès Camuzat
, et al.
소스
Journal of Neurology, Neurosurgery & Psychiatry
. 83:956-962
Full Text (BMJ Journals)
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7 .
Thickening of Peripapillar Retinal Fibers for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
저자
by
Filippo M. Santorelli
;
Jeremy Desserre
;
Philippe Debruyne
;
Bruno Georges Sautière
;
S. Defoort-Dhellemmes
, et al.
소스
The Cerebellum
. 10:758-762
Full Text (Springer)
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7 .
Psychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor-1 mutation
저자
by
Amir Glik
;
Rivka Inzelberg
;
Isabelle Vuillaume
;
David Devos
.
소스
Movement Disorders
. 23:1744-1747
Full Text (Wiley)
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6 .
Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)
저자
by
Claude-Alain Maurage
;
A. De Becdelievre
;
Alain Destée
;
Isabelle Vuillaume
;
David Devos
, et al.
소스
The Cerebellum
. 7:179-183
Full Text (Springer)
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7 .
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
저자
by
Christine Coubes
;
Bruno Barroso
;
Victor Chan
;
Yves Agid
;
Alexis Brice
, et al.
소스
neurogenetics
neurogenetics, Springer Verlag, 2008, 9 (2), pp.143-50. ⟨10.1007/s10048-008-0123-7⟩
neurogenetics, 2008, 9 (2), pp.143-50. ⟨10.1007/s10048-008-0123-7⟩
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7 .
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay
저자
by
Stefano Doccini
;
Rosa Carbone
;
Alessandra Cianflone
;
Chiara Criscuolo
;
A. Filla
, et al.
소스
Journal of neurology
(2015). doi:10.1007/s00415-015-7911-4
info:cnr-pdr/source/autori:Criscuolo C.; Procaccini C.; Meschini M.C.; Cianflone A.; Carbone R.; Doccini S.; Devos D.; Nesti C.; Vuillaume I.; Pellegrino M.; Filla A.; de Michele G.; Matarese G.; Santorelli F.M./titolo:Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay/doi:10.1007%2Fs00415-015-7911-4/rivista:Journal of neurology (Print)/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume
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7 .
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes
저자
by
Bérengère de Martinville
;
Luc Defebvre
;
Jean-Marie Cuisset
;
Marie-Pierre Lemaitre
;
Louis Vallée
, et al.
소스
Movement Disorders
. 21:2237-2240
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