Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
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
Mouse Infestation Likely Source of Lymphocytic Choriomeningitis in Teen
MMWR 65:248-249, Rostad, C.A. & Pickering, L.K., 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 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
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Clinicopathologic Conferences, Celiac Disease, Addisons Disease, and Major Depression Disorder
NEJM 368:2015-2024, Case 16-2013, 2013
The Myositis Autoantibody Phenotypes of the Juvenile Idiopathic Inflammatory Myopathies
Medicine 92:223-243, Rider, L.,et al, 2013
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Juvenile Dermatomyositis and Other Idiopathic Inflammatory Myopathies of Childhood
Lancet 371:2201-2212, Feldman,B.M.,et al., 2008
Magnetic Resonance Imaging of Biceps Femoris Muscles in Benign Acute Childhood Myositis
Arch Neurol 64:1200-1201, Kawarai,T.,et al, 2007
Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
Neurol 66:1585-1587, Fernandez,C.,et al, 2006
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Sensorineural Hearing Loss in Children
Lancet 365:879-890, Smith, R.J.H.,et al, 2005
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
The Incidence of Mitochondrial Encephalomyopathies in Childhood: Clinical Features and Morphological, Biochemical, and DNA Abnormalities
Ann Neurol 49:377-383, Darin,N.,et al, 2001
Dermatomyositis
Lancet 355:53-57, Callen,J.P., 2000
Benign Acute Childhood Myositis, Laboratory and Clinical Features
Neurol 53:2127-2131, Mackay,M.T.,et al, 1999
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
Ann Neurol 40:782-791, Pegoraro,E.,et al, 1996
Headaches in Children Younger than 7 Years of Age
Arch Neurol 49:79-82, Chu,M.L.&Chinnar,S., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Clinical Uses of Intravenous Immunoglobulins
Ann Int Med 112:278-292, Berkman,S.A.,et al, 1990
The Acquired Immunodeficiency Syndrome (AIDS) Dementia Complex
Ann Int Med 111:400-410, Ho,D.D.,et al, 1989
Cysticercosis-Review of 230 Patients
Bull Clin Neurosci 50:76-101, McCormick.G.F., 1985
Childhood Dermatomyositis:Factors Predicting Functional Outcome and Development of Dystrophic Calcification
Pediatrics 103:882-888, Bowyer,L.S.,et al, 1983
Benign Acute Childhood Myositis
Neurol 29:1068-1071, Henly,J.,et al, 1979
Neonatal Ophthalmoplegia with Microfibers:A Reversible Myopathy
Neurol 27:974, Hanson,P.A.,et al, 1977