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distal form of spinal muscular atrophy相关文献:
A distal form of chronic spinal muscular atrophy.
PMID:
The distal form of spinal muscular atrophy: an unusual case demonstrating the intermediate variety.
PMID:
Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?
PMID:
Serotonergic dysfunction impairs locomotor coordination in spinal muscular atrophy.
Delestrée N, Semizoglou E, Pagiazitis JG, Vukojicic A, Drobac E, Paushkin V, Mentis GZ.
Brain. 2023 Nov 2;146(11):4574-4593. doi: 10.1093/brain/awad221.
PMID:37678880
Distal muscular dystrophies.
Udd B.
Handb Clin Neurol. 2011;101:239-62. doi: 10.1016/B978-0-08-045031-5.00016-5.
PMID:21496636
Correlates of Fatigability in Patients With Spinal Muscular Atrophy.
Bartels B, de Groot JF, Habets LE, Wadman RI, Asselman FL, Nieuwenhuis EES, van Eijk RPA, Goedee HS, van der Pol WL.
Neurology. 2021 Feb 9;96(6):e845-e852. doi: 10.1212/WNL.0000000000011230. Epub 2020 Nov 20.
PMID:33219141
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
Ganassi M, Zammit PS.
Eur J Transl Myol. 2022 Mar 18;32(1):10064. doi: 10.4081/ejtm.2022.10064.
PMID:35302338
Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.
Mercuri E, Messina S, Kinali M, Cini C, Longman C, Battini R, Cioni G, Muntoni F.
Neuromuscul Disord. 2004 Feb;14(2):125-9. doi: 10.1016/j.nmd.2003.09.005.
PMID:14733958
Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis.
Velilla J, Marchetti MM, Toth-Petroczy A, Grosgogeat C, Bennett AH, Carmichael N, Estrella E, Darras BT, Frank NY, Krier J, Gaudet R, Gupta VA.
Neurol Genet. 2019 Mar 7;5(2):e312. doi: 10.1212/NXG.0000000000000312. eCollection 2019 Apr.
PMID:31041394
Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Perego MGL, Galli N, Nizzardo M, Govoni A, Taiana M, Bresolin N, Comi GP, Corti S.
Cell Mol Life Sci. 2020 Sep;77(17):3351-3367. doi: 10.1007/s00018-020-03492-0. Epub 2020 Mar 2.
PMID:32123965
The distal form of spinal muscular atrophy: an unusual case demonstrating the intermediate variety.
Isenberg DA, Kahn PA.
Postgrad Med J. 1982 Sep;58(683):554-7. doi: 10.1136/pgmj.58.683.554.
PMID:7145794
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.
Christodoulou K, Kyriakides T, Hristova AH, Georgiou DM, Kalaydjieva L, Yshpekova B, Ivanova T, Weber JL, Middleton LT.
Hum Mol Genet. 1995 Sep;4(9):1629-32. doi: 10.1093/hmg/4.9.1629.
PMID:8541851
A distal form of chronic spinal muscular atrophy.
Meadows JC, Marsden CD.
Neurology. 1969 Jan;19(1):53-8. doi: 10.1212/wnl.19.1.53.
PMID:5813127
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