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内部出版物
SpringerLink电子期刊(2)
Elsevier电子期刊(32)
在“
Elsevier电子期刊
”中,
命中:
32
条,耗时:0.0199887 秒
在所有数据库中总计命中:
34
条
1.
Alpers-Huttenlocher Syndrome
作者:
Russell P. Saneto
;
DO
;
PhD
a
;
russ.saneto@seattlechildrens.org
;
Bruce H. Cohen
;
MD
b
;
William C. Copeland
;
PhD
c
;
Robert
K.
Naviaux
;
MD
;
PhD
d
刊名:Pediatric Neurology
出版年:2013
2.
AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder
作者:
Naiara Akizu
;
Vincent Cantagrel
;
Jana Schroth
;
Na Cai
;
Keith Vaux
;
Douglas McCloskey
;
Robert
?K.
Naviaux
;
Jeremy Van?Vleet
;
Ali?G. Fenstermaker
;
Jennifer?L. Silhavy
;
Judith?S. Scheliga
;
Keiko Toyama
;
Hiroko Morisaki
;
Fatma M. Sonmez
;
Figen Celep
;
Azza Oraby
;
Maha?S. Zaki
;
Raidah Al-Baradie
;
Eissa A. Faqeih
;
Mohammed A.M. Saleh
;
et al.
刊名:Cell
出版年:2013
3.
Generation of patient-specific differentiated cells from fibroblast-derived hiPSCs for studying treatment of mitochondrial disease
作者:
Carlos A. Ainza
;
Thuy Le
;
James Parker
;
Rajesh Ambasudhan
;
Tomohiro Nakayama
;
Robert
K.
Naviaux
;
Stuart A. Lipton
;
H.-S. Vincent Chen
;
Richard H. Haas
刊名:Mitochondrion
出版年:November, 2013
4.
The purinergic life threat response: Metabolic features
作者:
Zarazuela Zolkipli
;
Tomohiro Nakayama
;
Thuy P. Le
;
Robert
K.
Naviaux
刊名:Mitochondrion
出版年:November, 2013
5.
Lesch-Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA
作者:
Khue Vu Nguyen
;
Robert
K.
Naviaux
;
Kacie K. Paik
;
William L. Nyhan
关键词:
Lesch&ndash
;
Nyhan syndrome
;
HPRT
;
Mutation
;
PCR
;
Real-time RT-PCR
;
Sequencing
刊名:Molecular Genetics and Metabolism
出版年:2012
6.
Mitochondrial and ion channel gene alterations in autism
作者:
Moyra Smith
;
Pamela L. Flodman
;
John J. Gargus
;
Mariella T. Simon
;
Kimberley Verrell
;
Richard Haas
;
Gail E. Reiner
;
Robert
Naviaux
;
Katherine Osann
;
M. Anne Spence
;
Douglas C. Wallace
关键词:
Autism
;
Mitochondria
;
OXPHOS
;
Copy number variants (CNVs)
;
Calcium channel
;
Synapses
刊名:Biochimica et Biophysica Acta (BBA)/Bioenergetics
出版年:2012
7.
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders
作者:
Russell P. Saneto
;
Inn-Chi Lee
;
Mary Kay Koenig
;
Xinhua Bao
;
Shao-Wen Weng
;
Robert
K.
Naviaux
;
Lee-Jun C. Wong
关键词:
POLG
;
Idiosyncratic hepatotoxicity
;
Valproic acid
;
Alpers–
;
Huttenlocher syndrome
;
Seizures
刊名:Seizure
出版年:2010
8.
The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders
作者:
Bruce H. Cohen
;
Robert
K.
Naviaux
关键词:
Mitochondrial disease diagnosis
;
Mitochondrial DNA depletion syndrome
;
Alpers–
;
Huttenlocher syndrome
;
Ataxia-neuropathy spectrum disorders
;
Progressive external ophthalmoplegia
;
Childhood myocerebrohepatopathy spectrum
;
Myoclonic epilepsy myopathy s
刊名:Methods
出版年:2010
9.
De novo
作者:
Sherine S.L. Chan
;
Robert
K.
Naviaux
;
Alice A. Basinger
;
Kari A. Casas
;
William C. Copel
关键词:
Mitochondrial disease
;
Mitochondrial DNA replication
;
Alpers syndrome
;
Nonsense-mediated decay
;
De novo
mutation
;
Haplotype insufficiency
刊名:Mitochondrion
出版年:2009
10.
Monitoring phosphorylation of the pyruvate dehydrogenase complex
作者:
Matthew J. Rardin
;
S
;
ra E. Wiley
;
Robert
K.
Naviaux
;
Anne N. Murphy
;
Jack E. Dixon
关键词:
Pyruvate dehydrogenase
;
Mitochondria
;
Dichloroacetate
;
Dichloroacetic acid
;
Leigh’
;
s syndrome
;
Reversible phosphorylation
;
Phospho-peptide
;
Phospho-antibody
刊名:Analytical Biochemistry
出版年:2009
1
2
3
4
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