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Myasthenia Gravis
NEJM 375:2570-2581, Gilhus, N.E.,et al, 2016

Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
Neurol 78: e126, Shah, S.,et al, 2012

Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010

Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009

Juvenile Dermatomyositis and Other Idiopathic Inflammatory Myopathies of Childhood
Lancet 371:2201-2212, Feldman,B.M.,et al., 2008

Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
Lancet 369:37-42,5, Wilcken,B.,et al, 2007

Narcolepsy With Cataplexy
Lancet 369:499-511, Dauvilliers,Y.,et al, 2007

Behcet's Disease
NEJM 341:1284-1291, Sakane,T.,et al, 1999

Diagnostic Aspects of Narcolepsy
Neurol 50:S2-S7, Aldrich,M.S., 1998

Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
Neurol 47:579-580, El-Schahawi,M.,et al, 1996

Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993

Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992

Central Nervous System Abnormalities in Lyme Neuroborreliosis
Neurol 41:1571-1582, Halperin,J.J.,et al, 1991

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986



Showing articles 0 to 18 of 18