Results 111 to 120 of about 9,468,531 (154)

Empagliflozin Repurposing for Lafora Disease: A Pilot Clinical Trial and Preclinical Investigation of Novel Therapeutic Targets. [PDF]

Methods Protoc
d'Orsi G, Liantonio A, Imbrici P, Gambacorta N, Dinoi G, Altomare CD, DEFEAT-LD Study Group, Carella M.   +7 more
europepmc   +1 more source

Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Dermitzakis I, Gargani S, Manthou ME, Theotokis P.   +6 more
europepmc   +1 more source

A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease

Neuromuscular Disorders, 2015
We report the clinical, neuro-imaging, pathological and biochemical features of an Italian family in which two siblings have the Adult Polyglucosan Body Disease (APBD). APBD is a rare autosomal recessive disorder characterized by a gradually progressive involvement of both the central and peripheral nervous systems caused by the deficiency of the ...
Esposito T, Sampaolo S, Gianfrancesco F, Napolitano F, Lombardi L, Lucà R, Roperto F, Di Iorio G   +7 more
exaly   +8 more sources

Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family

Neuromuscular Disorders, 2015
Adult Polyglucosan Body Disease (APBD) is a rare inherited leukodystrophy associated with axonal polyneuropathy, mainly reported in persons of Ashkenazi-Jewish descent. We describe three Italian siblings at disease onset, presenting in their fifties with a combination of pyramidal and ataxic signs, mild demyelinating neuropathy on neurophysiological ...
I. Colombo, S. Pagliarani, S. Testolin, E. Salsano, L. M. Napoli, A. Bordoni, S. Salani, E. D'Adda, L. Morandi, L. Farina, F. Magri, M. Riva, A. Prelle, M. Sciacco, G.P. Comi, M. Moggio   +15 more
exaly   +6 more sources

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A type of adult polyglucosan body disease

Acta Neuropathologica, 1982
Polyglucosan bodies in the nervous system and other viscera are the main findings at autopsy of a 64-year-old woman who had a chronic neurologic disorder of 20 years' duration. The clinical features included muscle weakness, sensory disturbances, neurogenic bladder, dementia, and cataracts.
K, Okamoto, J F, Llena, A, Hirano
openaire   +4 more sources

Glycogen branching enzyme deficiency in adult polyglucosan body disease

Annals of Neurology, 1993
AbstractBranching enzyme activity was assayed in muscle, peripheral nerve, and leukocytes from 2 Ashkenazi‐Jewish patients with adult polyglucosan body disease and 1 African‐American and 3 Caucasian patients with the same clinical and pathological features.
Bruno C., Servidei S., Shanske S., Karpati G., Carpenter S., McKee D., Barohn R. J., Hirano M., Rifai Z., Dimauro S.   +9 more
openaire   +3 more sources

Adult polyglucosan body disease in a patient originally diagnosed with Fabry’s disease

Neuromuscular Disorders, 2014
Adult polyglucosan body disease is a rare autosomal recessive disease, caused by glycogen branching enzyme gene mutations, characterised by urinary dysfunction, spastic paraplegia with vibration sense loss, peripheral neuropathy, and cognitive impairment.
Sagnelli, A, Savoiardo, M, Marchesi, C, Morandi, L, Mora, M, Morbin, M, Farina, L, MAZZEO, Anna, TOSCANO, Antonio, Pagliarani, S, Lucchiari, S, Comi, GP, Salsano, E, Pareyson, D.   +13 more
openaire   +3 more sources

Extensive white-matter changes in case of adult polyglucosan body disease

Neuroradiology, 2001
Extensive white matter signal changes were observed on T2-weighted images of a 49-year-old man. He presented with a slowly progressive gait disorder, and finally developed severe dementia. Extensive metabolic and infectious investigations failed to disclose the underlying cause during life. Autopsy revealed adult polyglucosan body disease.
Berkhoff M, Weis J, Schroth G, Sturzenegger M   +3 more
openaire   +4 more sources