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21 . Academic Journal
A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function.
저자
by
Pei-Chien Tsai
;
Yen-Hua Huang
;
Yuh-Cherng Guo
;
Hung-Ta Wu
;
Kon-Ping Lin
, et al.
소스
Neurology; 9/2/2014, Vol. 83 Issue 10, p903-912, 10p
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27 . Academic Journal
Extended phenotypic spectrum of KIF5A mutations.
저자
by
Yo-Tsen Liu
;
Laurá, Matilde
;
Hersheson, Joshua
;
Horga, Alejandro
;
Jaunmuktane, Zane
, et al.
소스
Neurology; 8/12/2014, Vol. 83 Issue 7, p612-619, 8p
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27 .
Acute withdrawal of new-generation antiepileptic drugs in epilepsy monitoring units: Safety and efficacy
저자
by
Yo-Tsen Liu
;
Po-Tso Lin
;
Yen-Cheng Shih
;
Der-Jen Yen
;
Chien-Chen Chou
, et al.
소스
Epilepsybehavior : EB
. 117
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27 .
The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia
저자
by
Chung-Yao Hsu
;
Yo-Tsen Liu
;
Yan-Ting Lu
;
Chih-Hsiang Lin
;
Yao-Chung Chuang
, et al.
소스
Biomedical journal
. 45(3)
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27 . Academic Journal
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.
저자
by
Yo-Tsen Liu
;
Hersheson, Joshua
;
Plagnol, Vincent
;
Fawcett, Katherine
;
Duberley, Kate E. C.
, et al.
소스
Journal of Neurology, Neurosurgery & Psychiatry
. May2014, Vol. 85 Issue 5, p493-498. 6p. 2 Diagrams, 2 Charts.
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27 . Academic Journal
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
저자
by
Tucci, Arianna
;
Yo-Tsen Liu
;
Preza, Elisabeth
;
Pitceathly, Robert D. S.
;
Chalasani, Annapurna
, et al.
소스
Journal of Neurology, Neurosurgery & Psychiatry
. May2014, Vol. 85 Issue 5, p486-492. 7p. 1 Color Photograph, 1 Diagram, 1 Chart, 2 Graphs.
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27 . Academic Journal
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.
저자
by
Murphy, Sinéad M.
;
Ernst, Daniela
;
Yu Wei
;
Laurà, Matilde
;
Yo-Tsen Liu
, et al.
소스
Neurology; 6/4/2013, Vol. 80 Issue 23, p2106-2111, 6p
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27 .
Clinical and biophysical characterization of 19 GJB1 mutations
저자
by
Yuh-Cherng Guo
;
Yi-Chu Liao
;
Pei-Chien Tsai
;
Kon-Ping Lin
;
Yi-Chung Lee
, et al.
소스
Annals of Clinical and Translational Neurology
. 3:854-865
Open Access (Wiley)
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27 .
PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects
저자
by
Chin-Yi Chen
;
Po-Hsi Lin
;
Yi-Chung Lee
;
Fang-Shin Nian
;
Jin Wu Tsai
, et al.
소스
Oncotarget
Open Access (OpenAIRE)
Scopus
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27 .
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene
저자
by
Henry Houlden
;
Joshua Hersheson
;
Prochi F. Madon
;
Yo-Tsen Liu
;
Reema Paudel
, et al.
소스
Cerebellum (London, England)
Open Access (OpenAIRE)
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