Results 51 to 60 of about 8,964,539 (118)

Table1_Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.DOCX

, 2023
Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1.
Wladimir Bocca Viera De Rezende Pinto (17662809), Matthew M. Gayed (17662803), Paulo Sgobbi (17662806), Rebecca L. Koch (13777501), Priya S. Kishnani (9214091)   +4 more
core   +1 more source

Is body mass index before middle age related to coronary heart disease risk in later life? [PDF]

, 2009
Objective: Although obesity beginning early in life is becoming more common, its implications for coronary heart disease (CHD) risk in later life remain uncertain.
Orfei, L, Osmond, C, Owen, C.G., Cook DG, Whincup, PH, Whincup, P.H., Rudnicka, A.R., Osmond C, A K Wathern, Chou, QA, Eriksson, JG, L Orfei, Eriksson, J.G., C Osmond, Kaye, SJ, D G Cook, Kaye, S.J., Wathern AK, C G Owen, Q-A Chou, Kaye SJ, J G Eriksson, Rudnicka, AR, Wathern, AK, A R Rudnicka, Rudnicka AR, Owen CG, Chou QA, Whincup PH, Eriksson JG, Wathern, A.K., Orfei L, S J Kaye, Cook, D.G., Chou, Q-A., Owen, CG, Cook, DG, P H Whincup, Osmond, C., Orfel, L.   +39 more
core   +1 more source

Use of levetiracetam for the successful treatment of suspected myoclonic seizures: five dogs (2016‐2022)

Journal of Small Animal Practice, Volume 65, Issue 6, Page 402-408, June 2024.
Objectives Myoclonic seizures are considered a type of generalised seizure characterised by brief, jerking movements of the body. The aim of this study is to describe cases of suspected canine myoclonic seizure of idiopathic aetiology and to discuss the successful use of the anticonvulsant levetiracetam as treatment in each of these cases.
J. Linder, J. Mehra, S. Miller, M. J. Lewis, R. T. Bentley, S. Thomovsky   +5 more
wiley   +1 more source

Targeting GYS1: From Metabolic Regulatory Mechanisms to Precision Therapeutic Strategies

Shengwu huaxue yu shengwu wuli jinzhan
Glycogen synthase 1 (GYS1) is the rate-limiting enzyme responsible for glycogen synthesis in skeletal muscle, heart, brain, and other extrahepatic tissues, playing a central role in systemic energy homeostasis.
ZHAO Jia-Nan, LI Yu-Xuan, ZHU Jie, LI Hong, JIN Xiao-Feng   +4 more
doaj   +1 more source

Adult polyglucosan body disease masquerading as "ALS with dementia of the Alzheimer type": An exceptional phenotype in a rare pathology

, 2012
We describe an exceptional clinical picture, namely, cognitive impairment of the Alzheimer disease type in a man who later developed manifestations typical of amyotrophic lateral sclerosis and who was subsequently found to have adult polyglucosan body ...
Catherine Colson, Ruth Duttmann, Glibert, Gerald, Hazim Kadhim, Kadhim, Hazim, Colson, Cathérine, Kurt Segers, Duttmann, Ruth, Gérald Glibert, Segers, Kurt   +9 more
core   +1 more source

Role of epigenetics and alterations in RNA metabolism in leukodystrophies

WIREs RNA, Volume 15, Issue 3, May/June 2024.
Leukodystrophies are rare brain disorders affecting white matter, with a clinical diversity still to be explained. Beyond genetics, epigenetic factors like histone modifications, DNA methylation, and non‐coding RNA dysregulation, as well as aberrant RNA maturation, are emerging as crucial contributors to these disorders.
Federica Rey, Letizia Esposito, Erika Maghraby, Alessia Mauri, Clarissa Berardo, Eleonora Bonaventura, Davide Tonduti, Stephana Carelli, Cristina Cereda   +8 more
wiley   +1 more source

Glycogen accumulation modulates life span in a mouse model of amyotrophic lateral sclerosis

Journal of Neurochemistry, Volume 168, Issue 5, Page 744-759, May 2024.
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the progressive loss of motor neurons in the spinal cord. Using the ALS mouse model expressing the G93A mutant of Superoxide Dismutase 1 (SOD1G93A), we found that glycogen accumulates in the spinal cord during disease progression, and that increased glycogen
M. Kathryn Brewer, Pascual Torres, Victòria Ayala, Manuel Portero‐Otin, Reinald Pamplona, Pol Andrés‐Benito, Isidro Ferrer, Matthew S. Gentry, Joan J. Guinovart, Jordi Duran   +9 more
wiley   +1 more source

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series

Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 255-269, March 2024.
Abstract Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4‐alpha‐glucan branching enzyme) deficiency secondary to pathogenic variants on GBE1 gene. The incidence is evaluated to 1:600 000 to 1:800 000 of live
Charles R. Lefèvre, Sophie Collardeau‐Frachon, Nathalie Streichenberger, Sophie Berenguer‐Martin, Alix Clémenson, Jérôme Massardier, Fabienne Prieur, Hélène Laurichesse, Fanny Laffargue, Cécile Acquaviva‐Bourdain, Roseline Froissart, Magali Pettazzoni   +11 more
wiley   +1 more source

Rapid development of pseudo‐ground‐glass bodies in liver transplants

Histopathology, Volume 85, Issue 1, Page 190-192, July 2024.
Anne Kristin Fischer, Hideo Baba, Elke Lainka, Julia Kälsch, Marion Müller, Uschi Zens, Reinhard Büttner, Hans‐Peter Fischer   +7 more
wiley   +1 more source

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
core   +1 more source