相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients
Kavi P. Patel et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach
J. Halter et al.
BONE MARROW TRANSPLANTATION (2011)
A novel homozygous mutation of DARS2 may cause a severe LBSL variant
N. Miyake et al.
CLINICAL GENETICS (2011)
Inherited mitochondrial neuropathies
Josef Finsterer
JOURNAL OF THE NEUROLOGICAL SCIENCES (2011)
Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy
Heather M. McLaughlin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Mitochondrial DNA mutations and human disease
Helen A. L. Tuppen et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2010)
Multi-system neurological disease is common in patients with OPA1 mutations
P. Yu-Wai-Man et al.
BRAIN (2010)
DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis
P. Isohanni et al.
JOURNAL OF MEDICAL GENETICS (2010)
A neurological perspective on mitochondrial disease
Robert McFarland et al.
LANCET NEUROLOGY (2010)
Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B
Aziz Shaibani et al.
ARCHIVES OF NEUROLOGY (2009)
Recessive twinkle mutations cause severe epileptic encephalopathy
Tuula Lonnqvist et al.
BRAIN (2009)
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
J. D. Stewart et al.
JOURNAL OF MEDICAL GENETICS (2009)
Inherited mitochondrial optic neuropathies
P. Yu-Wai-Man et al.
JOURNAL OF MEDICAL GENETICS (2009)
Friedreich ataxia: The clinical picture
Massimo Pandolfo
JOURNAL OF NEUROLOGY (2009)
The pathogenesis of Friedreich ataxia and the structure and function of frataxin
Massimo Pandolfo et al.
JOURNAL OF NEUROLOGY (2009)
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children
Eva Morava et al.
MITOCHONDRION (2009)
Mitofusins and OPA1 Mediate Sequential Steps in Mitochondrial Membrane Fusion
Zhiyin Song et al.
MOLECULAR BIOLOGY OF THE CELL (2009)
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
Julien Cassereau et al.
NEUROGENETICS (2009)
Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys
I. Erol et al.
NEUROMUSCULAR DISORDERS (2009)
Peripheral neuropathies due to mitochondrial disorders
B. Funalot
REVUE NEUROLOGIQUE (2009)
Hepatocerebral form of mitochondrial DNA depletion syndrome
Antonella Spinazzola et al.
ARCHIVES OF NEUROLOGY (2008)
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
D. P. Dimmock et al.
HUMAN MUTATION (2008)
Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations
Lee-Jun C. Wong et al.
HUMAN MUTATION (2008)
Disorders caused by deficiency of succinate-CoA ligase
E. Ostergaard
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy
F. Sedel et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)
Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated With Mitofusin 2 Mutations
Jean-Michel Vallat et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2008)
Neuroimaging of mitochondrial disease
Russell P. Saneto et al.
MITOCHONDRION (2008)
Leigh and Leigh-Like Syndrome in Children and Adults
Josef Finsterer
PEDIATRIC NEUROLOGY (2008)
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
Emmanuelle Sarzi et al.
ANNALS OF NEUROLOGY (2007)
Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation
K. Craig et al.
JOURNAL OF MEDICAL GENETICS (2007)
Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene
A. -M. Childs et al.
NEUROPEDIATRICS (2007)
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
Anna H. Hakonen et al.
BRAIN (2007)
Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate -: Report of three Brazilian patients
Daniel Gurgel Fernandes Tavora et al.
ARQUIVOS DE NEURO-PSIQUIATRIA (2007)
An approach to MRI of metabolic disorders in children
A. J. Barkovich
JOURNAL OF NEURORADIOLOGY (2007)
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA
Avril E. Castagna et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
Rosalba Carrozzo et al.
BRAIN (2007)
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Gert C. Scheper et al.
NATURE GENETICS (2007)
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE
M. Hirano et al.
NEUROLOGY (2006)
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene
Charalampos L. Karadimas et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
The spectrum of clinical disease caused by the A467T and W748SPOLG mutations:: a study of 26 cases
Charalampos Tzoulis et al.
BRAIN (2006)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
Rita Horvath et al.
BRAIN (2006)
NARP-MILS syndrome caused by 8993 T > G mitochondrial DNA mutation:: a clinical, genetic and neuropathological study
A. Rojo et al.
ACTA NEUROPATHOLOGICA (2006)
Demyelinating polyneuropathy in Leber hereditary optic neuropathy
H. J. Gilhuis et al.
NEUROMUSCULAR DISORDERS (2006)
Dichloroacetate causes toxic neuropathy in MELAS - A randomized, controlled clinical trial
P Kaufmann et al.
NEUROLOGY (2006)
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
S Züchner et al.
ANNALS OF NEUROLOGY (2006)
Peripheral neuropathy in genetic mitochondrial diseases
DE Stickler et al.
PEDIATRIC NEUROLOGY (2006)
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease
A Niemann et al.
JOURNAL OF CELL BIOLOGY (2005)
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA
G Ferrari et al.
BRAIN (2005)
Genetics of Charcot-Marie-Tooth disease type 4A:: mutations, inheritance, phenotypic variability, and founder effect
R Claramunt et al.
JOURNAL OF MEDICAL GENETICS (2005)
MNGIE neuropathy: Five cases mimicking chronic inflammatory demyelinating polyneuropathy
RS Bedlack et al.
MUSCLE & NERVE (2004)
Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein
U Spiekerkoetter et al.
MUSCLE & NERVE (2004)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): A disease of two genomes
M Hirano et al.
NEUROLOGIST (2004)
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
S Züchner et al.
NATURE GENETICS (2004)
Patient homozygous for a recessive POLG mutation presents with features of MERRF
G Van Goethem et al.
NEUROLOGY (2003)
Juvenile-onset Leigh syndrome with an acute polyneuropathy at presentation
DE Stickler et al.
JOURNAL OF CHILD NEUROLOGY (2003)
Minimum birth prevalence of mitochondrial respiratory chain disorders in children
D Skladal et al.
BRAIN (2003)
Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement
MEJ den Boer et al.
JOURNAL OF PEDIATRICS (2003)
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
G Van Goethem et al.
NEUROMUSCULAR DISORDERS (2003)
Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA
M Kärppä et al.
JOURNAL OF NEUROLOGY (2003)
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
HC Chen et al.
JOURNAL OF CELL BIOLOGY (2003)
Mutations in GDAP1 -: Autosomal recessive CMT with demyelination and axonopathy
E Nelis et al.
NEUROLOGY (2002)
Peripheral neuropathy associated with mitochondrial disorders:: 8 cases and review of the literature
S Bouillot et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2002)
Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DNA deletion
DGM McDonald et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency
C Bruno et al.
JOURNAL OF CHILD NEUROLOGY (2002)
The fidelity of human DNA polymerase γ with and without exonucleolytic proofreading and the p55 accessory subunit
MJ Longley et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
C Alexander et al.
NATURE GENETICS (2000)
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency
L Santoro et al.
NEUROMUSCULAR DISORDERS (2000)
分享论文
