Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996
Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.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
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992
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
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
The Facioscapulohumeral Synd, in Clinical Studies in Myology, Amsterdam, Excerpta Medica
p498-501, VanWijngaarden,G.K.&Bethlem,J., 1973
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
Neurol 97:958-963, Davalos, L.,et al, 2021
Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020
A 54-year-old man with Dyspnea and Muscle Weakness
Neurol 92:e1136-e1140, Chertcoff, A.,et al, 2019
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
A 42-year-old man with unilateral leg weakness
Neurol 90:e1085-e1090, Schneider, R.,et al, 2018
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
Adams & Victors Principles of Neurology, Chp 39, pg 1118, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
Neurol 79:e63, Komatsuzaki, S.,et al, 2012
Family Paralysis
Lancet 377:352, Sung,C.-C.,et al, 2011
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
Extension of the Clinical Spectrum of Danon Disease
Neurol 70:1358-1359, van der Kooi,A.J.,et al, 2008
Recurrent Acroparaesthesia During Febrile Infections
Lancet 363:1698, Bodamer,O.A.,et al, 2004
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004
Primary Brain Tumours in Adults
Lancet 361:323-331, Behin,A.,et al, 2003
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999
Autosomal Dominant Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy Linked to Chromosome 10q
Ann Neurol 46:684-692,681, Melberg,A.,et al, 1999