臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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機構	日期	題名	作者
臺大學術典藏	2020-03-05T06:05:46Z	Myopathy in Gaucher disease	LI-KAI TSAI; Chien Y.-H.; Yang C.-C.; Hwu W.-L.
臺大學術典藏	2020-03-05T06:05:45Z	Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy	LI-KAI TSAI; Yang C.-C.; Ting C.-H.; Su Y.-N.; Hwu W.-L.; Li H.
臺大學術典藏	2020-03-05T06:05:43Z	IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice	LI-KAI TSAI; Chen Y.-C.; Cheng W.-C.; Ting C.-H.; Dodge J.C.; Hwu W.-L.; Cheng S.H.; Passini M.A.
臺大學術典藏	2020-03-05T06:05:41Z	Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice	LI-KAI TSAI; Chen C.-L.; Ting C.-H.; Lin-Chao S.; Hwu W.-L.; Dodge J.C.; Passini M.A.; Cheng S.H.
臺大學術典藏	2020-03-05T06:05:37Z	Hypothermia improves disease manifestations in SMA mice via SMN augmentation	LI-KAI TSAI; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; Chien Y.-H.; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2020-03-05T06:05:31Z	A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice	Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI; Chien Y.-H.
臺大學術典藏	2020-03-05T06:05:29Z	Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency	Ho S.-Y.; Chien Y.-H.; LI-KAI TSAI; Muramatsu S.-I.; Hwu W.-L.; Liou H.-H.; Lee N.-C.
臺大學術典藏	2020-03-05T06:05:28Z	Clinical features of Pompe disease with motor neuronopathy	LI-KAI TSAI; Hwu W.-L.; Lee N.-C.; Huang P.-H.; Chien Y.-H.
臺大學術典藏	2020-03-05T01:18:09Z	Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations	Wu R.-M.; Shan D.-E.; Sun C.-M.; Liu R.-S.; Hwu W.-L.; CHUN-HWEI TAI; Hussey J.; West A.; Gwinn-Hardy K.; Hardy J.; Chen J.; Farrer M.; Lincoln S.
臺大學術典藏	2020-03-05T01:18:08Z	Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism	Lin C.-H.; Hwu W.-L.; Chiang S.-C.; CHUN-HWEI TAI; Wu R.-M.
臺大學術典藏	2020-03-05T01:18:05Z	Gene therapy for aromatic L-amino acid decarboxylase deficiency	Hwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; CHUN-HWEI TAI; Wu R.-M.
臺大學術典藏	2020-03-05T01:18:01Z	Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial	Chien Y.-H.; Lee N.-C.; Tseng S.-H.; CHUN-HWEI TAI; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L.
臺大學術典藏	2020-03-05T01:17:59Z	Modified frameless stereotactic system for intracerebral delivery of viral vector in young children	CHUN-HWEI TAI; Hwu W.-L.; Wu R.-M.; Tseng S.-H.
臺大學術典藏	2020-03-04T07:45:12Z	Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population	Chen S.-J.; Lee N.-C.; Chien Y.-H.; Hwu W.-L.; CHIN-HSIEN LIN
臺大學術典藏	2020-03-04T07:45:11Z	Parkin mutations and early-onset parkinsonism in a Taiwanese cohort	Wu R.-M.; Bounds R.; Lincoln S.; Hulihan M.; CHIN-HSIEN LIN; Hwu W.-L.; Chen J.; Gwinn-Hardy K.; Farrer M.
臺大學術典藏	2020-03-04T07:45:10Z	Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism	CHIN-HSIEN LIN; Hwu W.-L.; Chiang S.-C.; Tai C.-H.; Wu R.-M.
臺大學術典藏	2020-03-04T05:35:18Z	DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients	Wang C.K.; Wu Y.R.; Hwu W.L.; Chen C.M.; Ro L.S.; Chen S.T.; Gwinn-Hardy K.; Yang C.C.; Wu R.M.; Chen T.F.; Wang H.C.; Chao M.C.; MING-JANG CHIU; Lu C.J.; Lee-Chen G.J.
臺大學術典藏	2020-03-04T05:34:56Z	Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease	Huang A.-C.; Chien Y.-H.; Hwu W.-L.; MING-JANG CHIU; Chiu Y.-N.; Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.
臺大學術典藏	2020-03-04T05:34:46Z	Composite Scores of Plasma Tau and �]-Amyloids Correlate with Dementia in down Syndrome	Fang W.-Q.; Hwu W.-L.; Chien Y.-H.; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; MING-JANG CHIU
臺大學術典藏	2020-03-03T03:06:54Z	Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment	Peng S.S.-F.;Wen-Yih Tseng;Chien Y.-H.;Hwu W.-L.;Liu H.-M.; Peng S.S.-F.; WEN-YIH TSENG; Chien Y.-H.; Hwu W.-L.; Liu H.-M.
臺大學術典藏	2020-03-03T03:06:22Z	Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency	Tseng C.-H.; Chien Y.-H.; Lee N.-C.; Hsu Y.-C.; Peng S.-F.; WEN-YIH TSENG; Hwu W.-L.
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	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	2020-03-03T01:14:51Z	DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients	Wang C.K; Wu Y.R; Hwu W.L; Chen C.M; Ro L.S; Chen S.T; Gwinn-Hardy K; Yang C.C; Wu R.M; TA-FU CHEN; Wang H.C; Chao M.C; Chiu M.J; Lu C.J; Lee-Chen G.J.
臺大學術典藏	2020-02-27T01:50:09Z	Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification	Huang H.-P.;Chen P.-H.;Hwu W.-L.;Chuang C.-Y.;Chien Y.-H.;Stone L.;Chung-Liang Chien;Li L.-T.;Chiang S.-C.;Chen H.-F.;Ho H.-N.;Chen C.-H.;Kuo H.-C.; Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; Chien Y.-H.; Stone L.; CHUNG-LIANG CHIEN; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C.

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