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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024

Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014

Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010

Phaeochromocytoma
Lancet 366:665-675, Lenders,J.W.M.,et al, 2005

Recurrent Acroparaesthesia During Febrile Infections
Lancet 363:1698, Bodamer,O.A.,et al, 2004

Subarachnoid Hemorrhage
Stroke 33:1321-1326, Kissela,B.M.,et al, 2002

Subclinical Dopaminergic Dysfunction in Asymptomatic Parkinson's Disease Patients' Relatives with a Decreased Sense of Smell
Ann Neurol 50:34-41, Berendse,H.W.,et al, 2001

New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998

Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
Ann Neurol 41:150-159, Heutnik,P.,et al, 1997

Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
Ann Neurol 41:111-114, Bernardini,G.L.,et al, 1997

CT and MR Findings of Neuroacanthocytosis
J Comput Assist Tomogr 21:221-222, Okamoto,K.,et al, 1997

Clinical, Neuroimaging, and Pathologic Features of Progressive Nonfluent Aphasia
Ann Neurol 39:166-173, Turner,R.S.,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

Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994

Progressive Language Disorder Due to Lobar Atrophy
Ann Neurol 31:174-183, Snowden,J.S.,et al, 1992

Clinicopath Conf
Pick's Diseae, Case 6-1992, NEJM 326:397-405992., , 1992

Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992

Psychiatric Disturbances in Metachromatic Leukodystrophy
Arch Neurol 49:401-406, Hyde,T.M.,et al, 1992

Familial Intracranial Haemorrhage Due to Factor V Deficiency
JNNP 55:227-228, Wadia,R.S.,et al, 1992

Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
NEJM 327:1069-1074, Bilous,R.W.,et al, 1992

Erythromelalgia:Review of Clinical Characteristics and Pathophysiology
Am J Med 91:416-422, Jurzrock,R.&Cohen,P.R., 1991

Intracranial Hemorrhage in Patients with Polycystic Kidney Disease
Stroke 21:291-294, Ryu,S.J., 1990

Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987

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 28 of 28