A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
NEJM 334:362-366, Fadic,R.,et al, 1996
Globoid Cell Leukodystrophy:A Family with Both Late-Infantile and Adult Type
Neurol 41:1382-1384, Verdru,P.,et al, 1991
Progressive Rubella Panencephalitis
In Handbk of Clin Neurol, Vinken & Bruyn, Ed, N Holland Publ Co, 56:405-416, Wolinsky,J.S., 1990
Progressive Myopathy in Hyperkalemic Periodic Paralysis
Arch Neurol 47:1013-1017, Bradkey,W.G.,et al, 1990
Adult-Onset Adrenoleukodystrophy Manifesting as Dementia
Am J Med 87:481-483, Panegyres,P.K.,et al, 1989
Peripheral Neuropathy in Amyotrophic Chorea-Acanthocytosis
Ann Neurol 26:583-587, Vista,G.,et al, 1989
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
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984
Familial Occurrences of Adult-Type Neuronal Ceroid Lipofuscinosis
Arch Neurol 41:1091-1094, Tobo,M.,et al, 1984
Lipomembranous Polycystic Osteodysplasia (Brain, Bone, & Fat Disease)
Neurol 33:81-86, Bird,T.D.,et al, 1983
Distal Myopathy, Histochemical & Ultrastructural Studies
Arch Neurol 39:367-371, Kumamoto,T.,et al, 1982
Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978
Case Records of the MGH
Giant cell Angiitis, intracranial NEJM 295:9441976., , 1976
Pathology of Malignant Hyperpyrexia
BMJ Editorial 249, 1973, Feb., , 1973