Bilateral Ptosis, Dysphagia, and Progresive Weakness in a Patient of French-Canadian Background
Neurol 95:933-938, Paul,P.,et al, 2020
A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017
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
Brain Magnetic Resonance Imaging Findings in Patients with Mitochondrial Cytopathies
Arch Neurol 62:737-742, Barragan-Campos,H.M.,et al, 2005
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans
JAMA 286:2437-2440, Becher,M.W.,et al, 2001
GCG Genetic Expansions in Italian Patients with Oculopharyngeal Muscular Dystrophy
Neurol 54:608-614, Mirabella,M.,et al, 2000
Age and Cause of Death in Mitochondrial Diseases
Neurol 53:855-857, Klopstock,T.,et al, 1999
MR of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia
AJNR 19:95-99, Carlow,T.J.,et al, 1998
The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998
Confirmation of Linkage of Oculopharyngeal Muscular Dystrophy to Chromosome 14q11. 2-q13
Ann Neurol 40:801-804, Stajich,J.M.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 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
Ophthalmologic Manifestations in MELAS Syndrome
Arch Neurol 50:977-980, Fang,W.,et al, 1993
Neuropathic Findings in Oculopharyngeal Muscular Dystrophy, Seven Cases & Review of Literature
Arch Neurol 50:481-488, Hardiman,O.,et al, 1993
Graves Orbitopathy:Correlation of CT and Clinical Findings
Radiology 177:675-682, Nugent,R.A.,et al, 1990
Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
NEJM 320:1293-1299, Moraes,C.T.,et al, 1989
Clin. Path. Conference
External Ophthalmoplegia with Mitochondrial Myopathy, Case Record 3-1985, NEJM 312:171-177985., , 1985
Abnormalities of Eyelid Closure
In Walsh & Hoyt's Clinical Neuro-ophthalmology, Williams & Wilkins, Baltimore, 2:967, Miller,M.R., 1985
Graves'Disease Presenting with Bilateral Acute Painful Proptosis, Ptosis, Ophthalmoplegia, & Visual Loss
Lancet 2:431-433, Leonard,T.J.K.,et al, 1984
Isolated Ocular Myopathy & Celiac Disease in Childhood
Neurol 33:792, Sandyk,R.,et al, 1983
Chronic Progressive External Ophthalmoplegia (CPEO) :Clinical, Morphologic, & Biochemical Studies
Neurol 33:452-461, Mitsumoto,H.,et al, 1983
External Carotid-Cavernous Sinus Fistula Simulating Unilateral Graves Ophthalmopathy
J Comput Assist Tomogr 6:1006-1009, Merlis,A.L.,et al, 1982
Creatine Phosphokinase MB Band In Oculopharyngeal Muscular Dystrophy
(Letter) NEJM 301:270979., Diskin,C.J., 1979
Extraocular Muscle Biopsy in Chronic Progressive External Ophthalmoplegia
Ann Neurol 6:326-339, Ringel,S.P.,et al, 1979
Progressive Supranuclear Palsy-Case Study
NEJM 293:346, Richardson,E.P., 1975
Case Records of MGH-NEJM 289:366
1973 Tuberculoma of Cerebral hemisphere & Brain Stem., , 1973
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Ocular Myopathy
Arch Neurol 20:1, Magora,A.,et al, 1969
Chronic Progressive External Ophthalmoplegia
Arch Ophthalmol 82:845, Daroff,R., 1969
Progressive Ophthalmoplegia
Arch Neurol 19:362, Rosenberg,R.,et al, 1968
The Oculopharyngeal Syndrome
JAMA 203:1003, Murphy,S.F.,et al, 1968
Some Neuro-ophthalmological Observations
JNNP 30:383, Fisher,C.M., 1967
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Cancer Risk in Patients with Muscular Dystrophy and Myotonic Dystrophy
Neurol 103:e209883, Maya-Gonzalez,C.,et al, 2024
Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020
"Boule Du Biceps" in Dysferlinopathy
Neurol 94:83-84, El Sherif, R.,et al, 2020
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Accuracy of a Machine Learning Muscle MRI - Based Tool for the Diagnosis of Muscular Dystrophies
Neurol 94:e1094-e1102, Verdu-Diaz, J.,et al, 2020
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Persistent Respiratory Failure Following Cardiac Arrest
Neurol 90:e2174-e2178, Fullam, T. & Sladky, J.H., 2018
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy
AJNR 39:427-434, Gramegna, L.L.,et al, 2018
Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
Neurol 90:e172-e176, Roy, B. & Raynor, E., 2018
Long-term Effects of Glucocorticoids on Function, Quality of Life, and Survival in Patients with Duchenne Muscular Dystrophy: A Prospective Cohort Study
Lancet 391:451-461, McDonald, C.M.,et al, 2018