Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
A 60-Year Old Man with Asymmetric Weakness and Persistent Fever
Neurol 100:530-536, Zheng,Y.,et al, 2023
Clinicopath Conf
Tangier Disease, Case 16-1996, NEJM 334:1389-1394996., , 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
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Case Records of the MassGeneral Hospital, Case 41-1975, Acute Intermittent Porphyria
NEJM 293:817, Woods,B., 1975
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Clinicopathologic Conference,Necrotizing Noninflammatory Myopathy Consistent with Exposure to Statins
NEJM 36:944-954, Case 7-2012, 2012
Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
Neurol 79: e70-e72, Zhong, L.,et al, 2012
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999
Clinicopath Conf:Lymphoplasmocytic Lymphoma with Motor Neuronopathy,Waldenstrom's Macroglobulinemia
NEJM 340:1661-1669, , 1999
Pediatric Median Mononeuropathies:A Clinical and Electromyographic Study
Muscle & Nerve 17:755-762994., Deymeer,F.&Jones,H.R., 1994
POEMS Syndrome:A Study of 25 Cases and a Review of the Literature
Am J Med 97:543-553, Soubrier,M.J.,et al, 1994
Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
Neurol 42:85-91, Aubourg,P.,et al, 1992
Inclusion Body Myositis, Observations in 40 Patients
Brain 112:727-747, Lotz,B.P.,et al, 1989
McArdle's Disease:Biochemical and Molecular Genetic Studies
Ann Neurol 24:774-781, Servidei,S.,et al, 1988
Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis
NEJM 392:1461-1464, Gahl,W.A.,et al, 1988
Haemophilic Neuromyopathy
JNNP 42:600-605, Defaria,C.R.,et al, 1979