A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978
Ocular Involvement in Whipple's Disease
Arch Ophthalmol 96:1431-1436, Font,R.L.,et al, 1978
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
Progressive Camptocormia with Head Drop and Dysphagia
JAMA Neurol 80:209-210, El-Wahsh,S., et al, 2023
Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
NEJM 334:362-366, Fadic,R.,et al, 1996
Clinicopath Conf
Chronic Idiopathic Anhidrosis, Case 29-1994, NEJM 331:259-265994., , 1994
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984
Ultrastructure & Electrodiagnosis of Peripheral Neuropathy in Cockayne's Syndrome
Neurol 33:1606-1609, Grunnet,M.L.,et al, 1983
Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
Neurol 32:1277-1281, Baumann,R.J.,et al, 1982
Clinical Pathological Conference
Adrenoleukodystrophy, with Peripheral Neuropathy, Case Record 18-1979, NEJM 300:1037-104579., , 1979
Juvenile Huntington Chorea:Clinical, Ultrastructural, & Biochemical Studies
Neurol 28:23, Goebel,H.H.,et al, 1978
A Case of Schwartz-Jampel Syndrome with Unusual Muscle Biopsy Findings
Ann Neurol 3:93, Fariello,R.,et al, 1978
Juvenile Amaurotic Idiocy (Neuronal Ceroid Lipofuscinosis) & Lymphocyte Fingerprint Profiles
Ann Neurol 4:531-536, Baumann,R.J.,et al, 1978