Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
MELAS
MedLink.com, August, Klopstock, T., 2012
A 41-Year-Old Woman with Progressive Leg Weakness and Numbness, Dizziness, and Myalgia
Neurol 72:1262-1276, DiMauro,S.,et al, 2009
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
A Forearm Exercise Screening Test for Mitochondrial Myopathy
Neurol 58:1533-1538, Jensen,T.D.,et al, 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
Mitochondrial Disease and Stroke
Stroke 32:2507-2510, Martinez-Fernandez,E.,et al, 2001
Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
NEJM 341:1037-1044, 1077, Andreu,A.L.,et al, 1999
MR of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia
AJNR 19:95-99, Carlow,T.J.,et al, 1998
Acute Leukoencephalopathies:Differential Diagnosis and Investigation
The Neurologist 4:148-166, Weinshenker,B.G.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Recurrent Strokes in a 34-Year-Old Man
Lancet 350:560, Chinnery,P.F.,et al, 1997
Multiple Mitochondrial DNA Deletions in Sporadic Inclusion Body Myositis:A Study of 56 Patients
Ann Neurol 39:789-795, Santorelli,F.M.,et al, 1996
Atrophy of Bilateral Extraocular Muscles
J Neuro-Ophthalmol 16:286-288, Okamoto,K.,et al, 1996
Late-Onset Mitochondrial Myopathy
Ann Neurol 37:16-23, 31995., Johnston,W.,et al, 1995
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Neurological Multisystem Manifestation in Multiple Symmetric Lipomatosis:A Clinical and Electrophysiological Study
Muscle & Nerve 18:693-698995., Naumann,M.,et al, 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
Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340, LeForestier,N.,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
Neurol 44:721-727, Hirano,M.,et al, 1994
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
Ann Neurol 34:25-31, Koo,B.,et al, 1993
Ophthalmologic Manifestations in MELAS Syndrome
Arch Neurol 50:977-980, Fang,W.,et al, 1993
Depletion of Muscle Mitochondrial DNA in AIDS Patients with Zidovudine-Induced Myopathy
Lancet 337:508-510, Arnaudo,E.,et al, 1991
Zidovudine Myopathy:A Distinctive Disorder Associated with Mitochondrial Dysfunction
Ann Neurol 29:606-614, Mhiri,C.,et al, 1991
Mitochondrial Dysfunction in Multiple Symmetrical Lipomatosis
Ann Neurol 29:566-569, Berkovic,S.F.,et al, 1991
Adult Reye's Syndrome:A Review with New Evidence for a Generalized Defect in Intramitochondrial Enzyme Processing
Neurol 41:1815-1821, VanCoster,R.N.,et al, 1991
Mitochondrial Myopathies, Mechanisms Now Better Understood
BMJ 298:1127-1128, Schapira,A.H.V., 1989
Mitochondrial Myopathies:Clinical & Biochem Features of 30 Patients with Major Deletions of Muscle Mitochondrial DNA
Ann Neurol 26:699-708, Hold,I.J.,et al, 1989
MELAS Syndrome:Characteristic Migrainous & Epileptic Features and Maternal Transmission
Neurol 38:751-754, Montagne,P.,et al, 1988
Brain Metabolism in Mitochondrial Encephalomyopathy:A PET Study
J Comput Assist Tomogr 12:854-857, DeVolder,A.,et al, 1988
MELAS Syndrome Involving a Mother & Two Children
Arch Neurol 44:971-973, Driscoll,P.F.,et al, 1987
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
Mitochondrial Encephalomyopathy:Fluctuating Symptoms & CT
Neurol 34:1456-1460, Yamamoto,T.,et al, 1984