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Parkinson's Disease
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Zidovudine Myopathy:A Distinctive Disorder Associated with Mitochondrial Dysfunction
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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A 31-Year-Old Man with Sequential Vision Loss
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021
Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
NEJM 381:164-172, Case 21-2019, 2019
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017
Recommendations for the Management of Strokelike Episodes in Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes
JAMA 73:591-594, Koenig, M.K.,et al, 2016
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Epilepsy in Adults with Mitochondrial Disease: A Cohort Study
Ann Neurol 78:949-957, Whittaker, R.G.,et al, 2015
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Heterogeneity of Coenzyme Q10 Deficiency
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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A 41-Year-Old Woman with Progressive Leg Weakness and Numbness, Dizziness, and Myalgia
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Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
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Clinicopath Conf., Leighs syndrome, Intraventricular Hemorrhage and Periventricular Leukomalacia
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Differential Diagnosis of Restricted Diffusion Confined to the Cerebral Cortex
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Metabolic Disease and Stroke: MELAS
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
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Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Mitochondrial Optic Neuropathies
JNNP 72:423-425, Sadun,A.A., 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999
Acute Leukoencephalopathies:Differential Diagnosis and Investigation
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Frataxin Gene of Friedreich's Ataxia is Targeted to Mitochondria
Ann Neurol 42:265-269, Priller,J.,et al, 1997
Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Inclusion Body Myositis and Myopathies
Ann Neurol 38:705-713, Griggs,R.C.,et al, 1995
Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340995., Forestier,N.L.,et al, 1995
Diffuse Leukodystrophy with a Large-Scale Mitochondrial DNA Deletion
Lancet 343:1397-1398, Nakai,A.,et al, 1994
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Mitochondrial DNA mutations in an Outbreak of Optic Neuropathy in Cuba
Neurol 44:843-845, Hirano,M.,et al, 1994
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993