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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Institution Date Title Author
臺大學術典藏 2022-06-14T23:24:17Z Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita MING-JEN LEE; Lin, Pi Chen; Lin, Ming Hong; Chiou, Hsin Ying Clair; Wang, Kai; Huang, Chiung Wei
臺大學術典藏 2022-02-14T23:55:55Z Recent Advances in RNA Therapy and Its Carriers to Treat the Single-Gene Neurological Disorders MING-JEN LEE; Lee, Inyoul; Wang, Kai
臺大學術典藏 2021-09-14T23:19:07Z DNA hypermethylation involves in the down-regulation of chloride intracellular channel 4 (CLIC4) induced by photodynamic therapy Chiang, Pei Chi; Li, Pei Tzu; MING-JEN LEE; CHIN-TIN CHEN
臺大學術典藏 2021-03-02T14:00:28Z Changes in resurgent sodium current contribute to the hyperexcitability of muscles in patients with paramyotonia congenita Huang, Chiung Wei; Lai, Hsing Jung; Lin, Pi Chen; MING-JEN LEE
臺大學術典藏 2020-11-03T11:32:32Z Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4) gene Houlden H.; Salih M.A.M.; Timmerman V.; de Jonghe P.; Auer-Grumbach M.; Di Maria E.; Scaravilli F.; Wood N.W.; Reilly M.M.; Davis M.B.; An S.-F.; Sweeney M.G.; Groves M.J.; Stephenson D.A.; MING-JEN LEE
臺大學術典藏 2020-11-03T11:32:31Z Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C Su Y.-N.; Chiou P.-C.; Yang C.-C.; Fietz M.J.; Yu C.-L.; Hwu W.-L.; MING-JEN LEE
臺大學術典藏 2020-11-03T11:32:31Z Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Yip P.-K.; Jeng J.-S.; MING-JEN LEE; Tang S.-C.
臺大學術典藏 2020-11-03T11:32:30Z Recent developments in neurofibromatosis type 1 Stephenson D.A.; MING-JEN LEE
臺大學術典藏 2020-11-03T11:32:28Z Notch signaling and CADASIL Jeng J.-S.; Tang S.-C.; MING-JEN LEE; Yip P.-K.
臺大學術典藏 2020-03-03T02:33:37Z Genetic aspects of hereditary motor and sensory neuropathy MING-JEN LEE; Reilly M.M.
臺大學術典藏 2020-03-03T02:33:37Z Clinical and electrophysiological characteristics of inflammatory demyelinating neuropathies MING-JEN LEE; Chang Y.-C.; Chen R.-C.; Hsieh S.-T.
臺大學術典藏 2020-03-03T02:33:37Z Biochemical events coupled to the activation of serotonin receptors in brain regions of the rat Wei J.-W.; MING-JEN LEE; Yeh S.-R.
臺大學術典藏 2020-03-03T02:33:36Z Cutaneous and sympathetic denervation in neonatal rats with a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 gene Hsu S.-H.; MING-JEN LEE; Hsieh S.-C.; Scaravilli F.; Hsieh S.-T.
臺大學術典藏 2020-03-03T02:33:36Z Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4) gene MING-JEN LEE; Stephenson D.A.; Groves M.J.; Sweeney M.G.; Davis M.B.; An S.-F.; Houlden H.; Salih M.A.M.; Timmerman V.; de Jonghe P.; Auer-Grumbach M.; Di Maria E.; Scaravilli F.; Wood N.W.; Reilly M.M.
臺大學術典藏 2020-03-03T02:33:36Z Mutation of the sterol 27-hydroxylase gene (CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis [4] MING-JEN LEE; Huang Y.-C.; Sweeney M.G.; Wood N.W.; Reilly M.M.; Yip P.-K.
臺大學術典藏 2020-03-03T02:33:36Z Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease MING-JEN LEE; Nelson I.; Houlden H.; Sweeney M.G.; Hilton-Jones D.; Blake J.; Wood N.W.; Reilly M.M.
臺大學術典藏 2020-03-03T02:33:36Z The spinocerebellar ataxias-genotype-phenotype correlation Wood N.W.; MING-JEN LEE
臺大學術典藏 2020-03-03T02:33:35Z Characterization of a familial case with primary erythromelalgia from Taiwan MING-JEN LEE; Yu H.-S.; Hsieh S.-T.; Stephenson D.A.; Lu C.-J.; Yang C.-C.
臺大學術典藏 2020-03-03T02:33:35Z Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke Tang S.-C.; MING-JEN LEE; Jeng J.-S.; Yip P.-K.
臺大學術典藏 2020-03-03T02:33:35Z Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. MING-JEN LEE; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; Hwu W.L.; Hsieh F.J.; Stephenson D.A.; Yu C.L.
臺大學術典藏 2020-03-03T02:33:35Z Complex haplotypic effects of the ABCB1 gene on epilepsy treatment response Hung C.-C.; Tai J.J.; Lin C.-J.; MING-JEN LEE; Liou H.-H.
臺大學術典藏 2020-03-03T02:33:35Z Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C Yang C.-C.; Su Y.-N.; Chiou P.-C.; Fietz M.J.; Yu C.-L.; Hwu W.-L.; MING-JEN LEE
臺大學術典藏 2020-03-03T02:33:35Z Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Tang S.-C.; MING-JEN LEE; Jeng J.-S.; Yip P.-K.
臺大學術典藏 2020-03-03T02:33:34Z Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum MING-JEN LEE; Cheng T.-W.; Hua M.-S.; Pan M.-K.; Wang J.; Stephenson D.A.; Yang C.-C.
臺大學術典藏 2020-03-03T02:33:34Z Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese Chen S.-R.; Lin K.-P.; Kuo H.-C.; Chen C.-M.; Hsieh S.-T.; MING-JEN LEE; Yang C.-C.; Liu C.-S.; Huang C.-C.; Lyu R.-K.; Ro L.-S.

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