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congenital non-progressive ataxia相关文献:
Non-progressive congenital ataxias.
Steinlin M.
Brain Dev. 1998 Jun;20(4):199-208. doi: 10.1016/s0387-7604(98)00019-9.
PMID:9661964
Ataxia in children: early recognition and clinical evaluation.
Pavone P, Praticò AD, Pavone V, Lubrano R, Falsaperla R, Rizzo R, Ruggieri M.
Ital J Pediatr. 2017 Jan 13;43(1):6. doi: 10.1186/s13052-016-0325-9.
PMID:28257643
Non-progressive congenital ataxia with cerebellar hypoplasia in three families.
Yapici Z, Eraksoy M.
Acta Paediatr. 2005 Feb;94(2):248-53. doi: 10.1111/j.1651-2227.2005.tb01902.x.
PMID:15981765
[Non-progressive congenital ataxias].
Eirís-Puñal J, Gómez-Lado C, Castro-Gago M.
Rev Neurol. 2006 Nov 16-30;43(10):621-9.
PMID:17099856
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Béri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C.
J Med Genet. 2012 Jun;49(6):400-8. doi: 10.1136/jmedgenet-2012-100856.
PMID:22693284
VLDLR Cerebellar Hypoplasia.
Boycott KM, MacDonald SK, Parboosingh JS.
2008 Aug 26 [updated 2020 Feb 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301729
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium; Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE.
Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29.
PMID:31463572
Spinocerebellar Ataxia Type 13.
Waters MF.
2006 Nov 9 [updated 2020 Jun 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301404
SCA13 causes dominantly inherited non-progressive myoclonus ataxia.
Montaut S, Apartis E, Chanson JB, Ewenczyk C, Renaud M, Guissart C, Muller J, Legrand AP, Durr A, Laugel V, Koenig M, Tranchant C, Anheim M.
Parkinsonism Relat Disord. 2017 May;38:80-84. doi: 10.1016/j.parkreldis.2017.02.012. Epub 2017 Feb 11.
PMID:28216058
Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects.
Steinlin M, Zangger B, Boltshauser E.
Dev Med Child Neurol. 1998 Mar;40(3):148-54. doi: 10.1111/j.1469-8749.1998.tb15438.x.
PMID:9566649
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