A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
MELAS
MedLink.com, August, Klopstock, T., 2012
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Recurrent Strokes in a 34-Year-Old Man
Lancet 350:560, Chinnery,P.F.,et al, 1997
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Clinicopath Conf
Myopathy Due to Adult Acid Maltase Deficiency, 36-1986, NEJM 315:694-701986., , 1986
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
Ann Neurol 1:276, Karpati,G.,et al, 1977
A 60-Year Old Man with Asymmetric Weakness and Persistent Fever
Neurol 100:530-536, Zheng,Y.,et al, 2023
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
Neurol 93:939-944, Torabi,T.,et al, 2019
Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
Disseminated Cysticercosis
NEJM 375:e52, Baden, L.R., 2016
Clinicopathologic Conference, Dermatomyositis. Malignant Atrophic Papulosis (Degoss Disease), Involving the Skin and Gastrointestinal Tract
NEJM 370:2327-2337, Case 18-2014, 2014
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
The Patient Has the Diagnosis
Lancet 378:1436, Jubany,L.I.,et al, 2010
The Use of Nerve and Muscle Biopsy in the Diagnosis of Vasculitis: A 5 Year Retrospective Study
JNNP 79:1376-1381, Bennett,D.L.H.,et al, 2008
Clinicopath Conf., Severe Microangiopathy of Diabetic Vasculopathy with Multiple Cerebral Infarcts
NEJM 357:164-173, Case Study 21-2007, 2007
Clinicopath Conf., Colchicine Myoneuropathy
NEJM 349:1656-1663, Case 33-2003, 2003
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Mitochondrial Disease and Stroke
Stroke 32:2507-2510, Martinez-Fernandez,E.,et al, 2001
Clinicopath Conf,Hepatitis C,Type II Cryoglobulinemia,Vasculitis,B-cell Lymphoma,Mononeuritis Multiplex,Case 3-1999
NEJM 340:300-307, , 1999
Congenital Muscular Dystrophy:Use of Brain MR Imaging to Predict Merosin Deficiency
Radiology 206:811-816, Lamer,S.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Muscle-Eye-Brain Disease:A Neuropathological Study
Ann Neurol 41:173-180, Haltia,M.,et al, 1997
Mutations in the Sarcoglycan Genes in Patients with Myopathy
NEJM 336:618-624, Duggan,D.J.,et al, 1997
Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
Neurol 46:461-465, North,K.N.,et al, 1996
Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996
Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
Clinicopath Conf
Polyarteritis Nodosa, with Neuropathy, Case 40-1994, NEJM 331:1293-130094., , 1994
Neuromuscular Manifestations of Wegener's Granulomatosis:A Case Report
Neurol 43:617-618, Finkelman,R.,et al, 1993
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
Ann Neurol 34:25-31, Koo,B.,et al, 1993
Cholesterol Emboli Neuropathy
Neurol 42:428-430, Bendixen,B.H.,et al, 1992
Clinicopath Conf
Churg-Strauss Syndrome, Case 18-1992, NEJM 326:1204-1212992., , 1992
Transeophageal Echocardiographic Detection of Aortic Arch Disease in Patients with Cerebral Infarction
Stroke 23:1005-1009, Amarenco,P.,et al, 1992
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Pravastatin-Associated Inflammatory Myopathy
NEJM 327:649-650, Schalke,B.B.,et al, 1992
McArdle's Disease with Late-Onset Symptoms:Case Report & Review of the Literature
JNNP 55:407-408, Felice,K.J.,et al, 1992
Mitochondrial Dysfunction in Multiple Symmetrical Lipomatosis
Ann Neurol 29:566-569, Berkovic,S.F.,et al, 1991
Adult Phosphorylase b Kinase Deficiency
Ann Neurol 28:529-538, Clemens,P.R.,et al, 1990
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Cholesterol Embolism:Experience with 22 Histologically Proven Cases
Surgery 105:737-746, Dahlberg,P.J.,et al, 1989
MELAS Syndrome:Characteristic Migrainous & Epileptic Features and Maternal Transmission
Neurol 38:751-754, Montagne,P.,et al, 1988