Results 91 to 100 of about 62,774 (200)

GSD Typ II und Typ IV: Biochemische und molekulargenetische Analyse bei Patienten mit Mangel an saurer α-Glukosidase bzw. mit Branchingenzymmangel [PDF]

, 2005
Die Glykogen-Speicherkrankheit (GSD) ist eine seltene Stoffwechselerkrankung, die in verschiedenen Ausprägungen (Typen) vorkommt. Im ersten Teil der Arbeit wird durch Messung der Enzymaktivität von saurer α-Glukosidase und der Enzymaktivität des ...
Lee, Hyun Kyung
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[Multiple entrapments neuropathy in adult polyglucosan body disease].

Neurologia (Barcelona, Spain), 1995
Adult polyglucosan body disease (APBD) is a rare condition characterized by neuropathy, dementia, upper motor neuron dysfunction and neurogenic bladder. For diagnosis, the presence of polyglucosan bodies (PB), or PAS (+) glucose polymers, must be demonstrated.
E, Gil-Néciga, J A, Pareja, I, Chincón, S, Jarrín, P, Chaparro   +4 more
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Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients [PDF]

BACKGROUND: To describe the epidemiology, clinical features, degree of disability and genetic characteristics of a cohort of patients with a vestibulo-cerebellar ataxia of very late onset (LOVCA).
Alemany, Berta, Alvarez-Mora, Maria Isabel, Brais, Bernard, Buxo, Maria, Campos, Berta, Corral, Jordi, Danzi, Matt C, de Jorge, Laura, Dicaire, Marie-Josee, Gardenyes, Josep, Genis, David, Houlden, Henry, Marquez, Fabian, Obon, Maria, Pellerin, David, Rodriguez-Revenga, Laia, Roig, Carles, San Nicolas, Hector, Sancho, Joan Martinez, Torrenta, Lluis, Volpini, Victor, Zuchner, Stephan   +21 more
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[Adult polyglucosan body disease: report of one case].

Neurologia (Barcelona, Spain), 2001
Adult polyglucosan body disease is a recently established clinicopathological entity, with few cases reported in the literature. In this paper we describe a case of a 46-year-old man who had died to a pancreatic cancer whose neuropathological study revealed a massive accumulation of polyglucosan bodies in the cerebral white matter, brainstem ...
A, Hernández, G, Céspedes, J, Pinto, M, Santana   +3 more
openaire   +1 more source

THE REGULATION OF TNF SIGNALING IN METABOLISM-RELATED DISEASES [PDF]

Tumor necrosis factor (TNF) is a proinflammatory cytokine with a well-established role in diabetes pathogenesis. In addition to driving inflammation, TNF can induce cell death; yet the contribution of TNF-induced cell death to β-cell loss in diabetes ...
Veli, Önay
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Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed [PDF]

, 2016
A McKenna, A Tipold, AC Thomas, C Agler, C Chieffo, Cathryn S. Mellersh, CH Vite, Christopher A. Jenkins, CM Ha, D Henke, DP O’Brien, G Gandini, G Urkasemsin, G Urkasemsin, G Urkasemsin, H Li, HS Huang, HS Steinberg, JB Thomas, JF Cummings, Joe Fenn, JR Sandy, K Kyostila, LL Merwe van der, M Kent, Mike Boursnell, N Akizu, N Olby, Oliver P. Forman, OP Forman, P Cingolani, Patrick J. Kenny, R Zeng, RA Thames, Rebecca L. Terry, Rebekkah J. Hitti, Simon L. Priestnall, T Flegel, TS Jokinen   +38 more
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Adult polyglucosan body disease [PDF]

, 2020
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Mouse brain contains age-dependent extraparenchymal granular structures and astrocytes, both reactive to natural IgM antibodies, linked to the fissura magna [PDF]

Mouse brains can contain specific polyglucosan aggregates known as Periodic Acid-Schiff (PAS)-granules. Generated in astrocytes, these granules increase with age and exhibit neo-epitopes of carbohydrate nature that are recognized by natural IgM ...
Alsina Planelles, Raquel, Pelegrí i Gabaldà, Carme, Riba Baqués, Marta, Romera, Clara, Sartorio, Marina, Valle i Macià, Jaume del, Vilaplana i Hortensi, Jordi   +6 more
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Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes [PDF]

, 2013

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Mol Genet Metab [PDF]

Leukodystrophies are a heterogeneous, often progressive group of disorders manifesting a wide range of symptoms and complications. Most of these disorders have historically had no etiologic or disease specific therapeutic approaches.

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