A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014
Hearing Improvement After Bevacizumab in Patients with Neurofibromatosis Type 2
NEJM 361:358-367, Plotkin,S.R.,et al, 2009
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
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 DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
TORCH Infections in the Newborn
Semin Neurol 13:106-115, Donley,D.K., 1993
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
(Ed) 5th Ed. , McGraw-Hill, New York, p. 766, Stanbury,J.B., 1983
Neurologic Disturbances in Pagets Disease of Bone:Response to Calcitonin
Neurol 29:448-457, Chen,J.R.,et al, 1979
Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978
Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
Arch Neurol 35:337, Brumback,R.A.,et al, 1978
School Failure & Deafness After"Silent"Congenital Cytomegalovirus Infection
NEJM 295:468, Hanshaw,J.B.,et al, 1976
Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
(Ed) , 4th edition, The C. V. Mosby Company St. Louis, Chap. 8, pp. 390. , 1972, McKusick,V.A., 1972
Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
(Ed) 4th Ed, The C. V. Mosby Co, St. Louis, p. 583, McKusick,V.A., 1972