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congenital hypermyotonia相关文献:
Congenital familial hypertonia.
DeLuca CF, Cashore WJ.
Clin Pediatr (Phila). 2002 Sep;41(7):529-32. doi: 10.1177/000992280204100713.
PMID:12365318
Genetic cerebellar ataxias.
Storey E.
Semin Neurol. 2014 Jul;34(3):280-92. doi: 10.1055/s-0034-1386766. Epub 2014 Sep 5.
PMID:25192506
ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.
Salem IH, Blais M, Zuluaga-Sánchez VM, Rouleau L, Becker EBE, Dupré N.
Cerebellum. 2025 Jan 3;24(1):24. doi: 10.1007/s12311-024-01777-9.
PMID:39753868
Hyperexplexia or stiff baby syndrome.
Tohier C, Roze JC, David A, Veccierini MF, Renaud P, Mouzard A.
Arch Dis Child. 1991 Apr;66(4):460-1. doi: 10.1136/adc.66.4.460.
PMID:2031600
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.
Wang M, Yang H, Lin Z, Li X, Liu L, Huang S, Zhao H, Zhu X, Xiao Q, Duan R, Wang J, Zuchner S, Tang B, Zhang R.
J Neurol. 2023 Oct;270(10):4959-4967. doi: 10.1007/s00415-023-11821-z. Epub 2023 Jun 26.
PMID:37365282
Congenital stiff-man syndrome.
Sander JE, Layzer RB, Goldsobel AB.
Ann Neurol. 1980 Aug;8(2):195-7. doi: 10.1002/ana.410080212.
PMID:7425575
Particularities of spasticity in myelomeningocele patients.
Mavridis IN, Pyrgelis ES, Agapiou E, Meliou M, Wimalachandra WSB.
Childs Nerv Syst. 2024 Dec;40(12):4107-4114. doi: 10.1007/s00381-024-06649-5. Epub 2024 Oct 10.
PMID:39387923
Movement disorders in mitochondrial diseases.
Tranchant C, Anheim M.
Rev Neurol (Paris). 2016 Aug-Sep;172(8-9):524-529. doi: 10.1016/j.neurol.2016.07.003. Epub 2016 Jul 28.
PMID:27476418
Congenital defects of the bovine central nervous system.
Leipold HW, Hiraga T, Dennis SM.
Vet Clin North Am Food Anim Pract. 1993 Mar;9(1):77-91. doi: 10.1016/s0749-0720(15)30673-3.
PMID:8457932
Congenital hindlimb rigidity in a dog.
Stead AC, Camburn MA, Gunn HM, Kirk EJ.
J Small Anim Pract. 1977 Jan;18(1):39-46. doi: 10.1111/j.1748-5827.1977.tb05822.x.
PMID:853731
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