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Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
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
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Inclusion Body Myositis, Observations in 40 Patients
Brain 112:727-747, Lotz,B.P.,et al, 1989
Adult-Onset Adrenoleukodystrophy Manifesting as Dementia
Am J Med 87:481-483, Panegyres,P.K.,et al, 1989
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Lipomembranous Polycystic Osteodysplasia (Brain, Bone, & Fat Disease)
Neurol 33:81-86, Bird,T.D.,et al, 1983
Juvenile Huntington Chorea:Clinical, Ultrastructural, & Biochemical Studies
Neurol 28:23, Goebel,H.H.,et al, 1978
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
Case Records of MGH-NEJM 286:1047
1972 Progressive Multifocal Leukoencephalopathy., , 1972