Acute Leukoencephalopathies:Differential Diagnosis and Investigation
The Neurologist 4:148-166, Weinshenker,B.G.,et al, 1998
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Differential Diagnosis of Restricted Diffusion Confined to the Cerebral Cortex
Clin Radiol 63:1245-1253, Sheerin,F.,et al, 2008
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
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
A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Clinico-Radiological Spectrum of Bilateral Temporal Lobe Hyperintensity: A Retrospective Review
Br J Radiol 85:e782-e792, Sureka, J. & Jakkani, R.K., 2012
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
A 41-Year-Old Woman with Progressive Leg Weakness and Numbness, Dizziness, and Myalgia
Neurol 72:1262-1276, DiMauro,S.,et al, 2009
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Cerebral MR Imaging in Uninfected Children Born to HIV-Seropositive Mothers and Perinatally Exposed to Zidovudine
AJNR 26:695-701,687, Tardieu,M.,et al, 2005
Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
The Neurologist 10:201-215, Kalman,B. &Leist,T.P., 2004
Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999
Neuroradiological Features of Six Kindreds with MELAS tRNA(Leu) A3243G Point Mutation: Implications for Pathogenesis
JNNP 65:233-240, Sue,C.M.,et al, 1998
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 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
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Mitochondrial Encephalomyopathy:Fluctuating Symptoms & CT
Neurol 34:1456-1460, Yamamoto,T.,et al, 1984