| 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. |
| 臺大學術典藏 |
2020-03-03T02:33:34Z |
Nerve function and dysfunction in acute intermittent porphyria
|
Lin C.S.-Y.; Krishnan A.V.; MING-JEN LEE; Zagami A.S.; You H.-L.; Yang C.-C.; Bostock H.; Kiernan M.C. |
| 臺大學術典藏 |
2020-03-03T02:33:34Z |
Acute intermittent porphyria with peripheral neuropathy: A follow-up study after hematin treatment
|
Kuo H.-C.; MING-JEN LEE; Chuang W.-L.; Huang C.-C. |
| 臺大學術典藏 |
2020-03-03T02:33:34Z |
Recent developments in neurofibromatosis type 1
|
MING-JEN LEE; Stephenson D.A. |
| 臺大學術典藏 |
2020-03-03T02:33:33Z |
Leptin induces migration and invasion of glioma cells through MMP-13 production
|
Yeh W.-L.; Lu D.-Y.; MING-JEN LEE; Fu W.-M. |
| 臺大學術典藏 |
2020-03-03T02:33:33Z |
Notch signaling and CADASIL
|
Tang S.-C.; Jeng J.-S.; MING-JEN LEE; Yip P.-K. |
| 臺大學術典藏 |
2020-03-03T02:33:33Z |
Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism
|
MING-JEN LEE; Mata I.F.; Lin C.-H.; Tzen K.-Y.; Lincoln S.J.; Bounds R.; Lockhart P.J.; Hulihan M.M.; Farrer M.J.; Wu R.-M. |
| 臺大學術典藏 |
2020-03-03T02:33:33Z |
Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonography
|
Ma G.-C.; Chang S.-D.; Chang Y.; Chang S.-P.; Yang C.-W.; MING-JEN LEE; Lee T.-H.; Chen M. |
| 臺大學術典藏 |
2020-03-03T02:33:33Z |
HMBS mutations in chinese patients with acute intermittent porphyria
|
Yang C.-C.; Kuo H.-C.; You H.-L.; Wang J.; Huang C.-C.; Liu C.-Y.; Lan M.-Y.; Stephenson D.A.; MING-JEN LEE |
| 臺大學術典藏 |
2020-03-03T02:33:32Z |
Focal brain glucose hypermetabolism in myoclonus-dystonia syndrome caused by an epsilon-sarcoglycan gene mutation
|
Tai C.-H.; Yen R.-F.; Lin C.-H.; Yen K.-Y.; Yip P.-K.; Wu R.-M.; MING-JEN LEE |
| 臺大學術典藏 |
2020-03-03T02:33:32Z |
Cerebral amyloid angiopathy in East and West
|
Chen Y.-W.; MING-JEN LEE; Smith E.E. |
| 臺大學術典藏 |
2020-03-03T02:33:32Z |
Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser
|
Yang N.C.-C.; MING-JEN LEE; Chao C.-C.; Chuang Y.-T.; Lin W.-M.; Chang M.-F.; Hsieh P.-C.; Kan H.-W.; Lin Y.-H.; Yang C.-C.; Chiu M.-J.; Liou H.-H.; Hsieh S.-T. |
| 臺大學術典藏 |
2020-03-03T02:33:32Z |
Longitudinal evaluation of an N-Ethyl-N-nitrosourea-created murine model with normal pressure hydrocephalus
|
MING-JEN LEE; Chang C.-P.; Lee Y.-H.; Wu Y.-C.; Tseng H.-W.; Tung Y.-Y.; Wu M.-T.; Chen Y.-H.; Kuo L.-T.; Stephenson D.; Hung S.-L.; Wu J.-Y.; Chang C.; Chen Y.-T.; Chern Y. |
| 臺大學術典藏 |
2020-03-03T02:33:31Z |
Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease
|
Wu Y.-Y.; Cheng I.H.-J.; Lee C.-C.; Chiu M.-J.; MING-JEN LEE; Chen T.-F.; Hsu J.-L. |
| 臺大學術典藏 |
2020-03-03T02:33:31Z |
Neurological complications of acute intermittent porphyria
|
Kuo H.-C.; Huang C.-C.; Chu C.-C.; MING-JEN LEE; Chuang W.-L.; Wu C.-L.; Wu T.; Ning H.-C.; Liu C.-Y. |
| 臺大學術典藏 |
2020-03-03T02:33:31Z |
rs5848 variant of progranulin gene is a risk of Alzheimer's disease in the Taiwanese population
|
MING-JEN LEE; Chen T.-F.; Cheng T.-W.; Chiu M.-J. |
| 臺大學術典藏 |
2020-03-03T02:33:31Z |
Impairment of oxidative stress-induced heme oxygenase-1 expression by the defect of Parkinson-related gene of PINK1
|
MING-JEN LEE; Chien W.-L.; Lee T.-R.; Hung S.-Y.; Kang K.-H.; Fu W.-M. |
| 臺大學術典藏 |
2020-03-03T02:33:31Z |
The microRNA spectrum in 12 body fluids
|
Weber J.A.; Baxter D.H.; Zhang S.; Huang D.Y.; Huang K.H.; MING-JEN LEE; Galas D.J.; Wang K. |
| 臺大學術典藏 |
2020-03-03T02:33:30Z |
The influences of reserpine and imipramine on the 5-HT2 receptor binding site and its coupled second messenger in rat cerebral cortex
|
MING-JEN LEE; Wei J.-W. |
| 臺大學術典藏 |
2020-03-03T02:33:30Z |
PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort
|
Lee Y.-C.; MING-JEN LEE; Yu H.-Y.; Chen C.; Hsu C.-H.; Lin K.-P.; Liao K.-K.; Chang M.-H.; Liao Y.-C.; Soong B.-W. |
| 臺大學術典藏 |
2020-03-03T02:33:30Z |
The systems biology of neurofibromatosis type 1 - Critical roles for microRNA
|
MING-JEN LEE; Cho J.-H.; Galas D.J.; Wang K. |
| 臺大學術典藏 |
2020-03-03T02:33:30Z |
Purple pigments: The pathophysiology of acute porphyric neuropathy
|
Lin C.S.-Y.; MING-JEN LEE; Park S.B.; Kiernan M.C. |
| 臺大學術典藏 |
2020-03-03T02:33:30Z |
Valosin-containing protein and neurofibromin interact to regulate dendritic spine density
|
Wang H.-F.; Shih Y.-T.; Chen C.-Y.; Chao H.-W.; MING-JEN LEE; Hsueh Y.-P. |
| 臺大學術典藏 |
2020-03-03T02:33:29Z |
Soluble AXL: a possible circulating biomarker for neurofibromatosis type 1 related tumor burden
|
Johansson G.; Peng P.-C.; Huang P.-Y.; Chien H.-F.; Hua K.-T.; Kuo M.-L.; Chen C.-T.; MING-JEN LEE |
| 臺大學術典藏 |
2020-03-03T02:33:29Z |
Molecular pathogenesis of neurofibromatosis type 1
|
MING-JEN LEE; Etheridge A.; Galas D.J.; Wang K. |
| 臺大學術典藏 |
2020-03-03T02:33:29Z |
Increase of oxidative stress by a novel PINK1 mutation, P209A
|
Chien W.-L.; Lee T.-R.; Hung S.-Y.; Kang K.-H.; Wu R.-M.; MING-JEN LEE; Fu W.-M. |
