Metabolic disease (inherited)

Citations 51-60 of 116 total displayed.

Past content (since Jul 2001):

BRIEF COMMUNICATIONS
Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease

D. Ramirez-Montealegre, S. Chattopadhyay, T. M. Curran, C. Wasserfall, L. Pritchard, D. Schatz, J. Petitto, D. Hopkins, J. -X. She, P. G. Rothberg, M. Atkinson, and D. A. Pearce
Neurology 2005; 64: 743-745. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
[¹²³I]FP-CIT SPECT findings in two patients with Hallervorden–Spatz disease with homozygous mutation in PANK2 gene

G. Cossu, C. Cella, M. Melis, A. Antonini, G. L. Floris, L. Ruffini, and A. Spissu
Neurology 2005; 64: 167-168. [Full text] [PDF]  

ARTICLES
Sensorimotor cortex excitability in Unverricht–Lundborg disease and Lafora body disease

L. Canafoglia, C. Ciano, F. Panzica, V. Scaioli, C. Zucca, P. Agazzi, E. Visani, G. Avanzini, and S. Franceschetti
Neurology 2004; 63: 2309-2315. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
T2-hyperintense cerebellar cortex in Marinesco–Sjögren syndrome

I. Harting, A. Blaschek, N. I. Wolf, A. Seitz, M. Haupt, H. H. Goebel, D. Rating, K. Sartor, and F. Ebinger
Neurology 2004; 63: 2448-2449. [Full text] [PDF]  

VIEWS & REVIEWS
Glutamic acid decarboxylase autoimmunity in Batten disease and other disorders

David A. Pearce, Mark Atkinson, and Danilo A. Tagle
Neurology 2004; 63: 2001-2005. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Generalized dystonia and striatal calcifications with lipoid proteinosis

H. A.G. Teive, E. R. Pereira, J. A.A. Zavala, M. C. Lange, L. de Paola, S. Raskin, L. C. Werneck, T. Hamada, and J. A. McGrath
Neurology 2004; 63: 2168-2169. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Heterozygous Niemann-Pick disease type C presenting with tremor

Keith A. Josephs, Joseph Y. Matsumoto, and Noralane M. Lindor
Neurology 2004; 63: 2189-2190. [Full text] [PDF]  

ARTICLES
Natural history of nonketotic hyperglycinemia in 65 patients

J. E. Hoover-Fong, S. Shah, J. L.K. Van Hove, D. Applegarth, J. Toone, and A. Hamosh
Neurology 2004; 63: 1847-1853. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation

S. T. Pendlebury, P. M. Rothwell, A. Dalton, and E. A. Burton
Neurology 2004; 63: 1982-1983. [Full text] [PDF]  

BRIEF COMMUNICATIONS
Adult -mannosidosis: Clinical progression in the absence of demyelination

A. Gutschalk, I. Harting, M. Cantz, C. Springer, K. Rohrschneider, and H-M. Meinck
Neurology 2004; 63: 1744-1746. [Abstract] [Full text] [PDF]  

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