Results 31 to 40 of about 493 (92)

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

Proteomic profiling of polyglucosan bodies associated with glycogenin‐1 deficiency in skeletal muscle

Neuropathology and Applied Neurobiology, Volume 50, Issue 3, June 2024.
Polyglucosan storage disorders represent an emerging field within neurodegenerative and neuromuscular conditions. We combined molecular genetic analyses, quantitative mass spectrometry of laser micro‐dissected polyglucosan bodies, immunohistochemistry and western blot, and show that the absence of glycogenin‐1 (GYG1), a protein important for glycogen ...
Kittichate Visuttijai, Carola Hedberg‐Oldfors, Daniel J. Costello, Niamh Bermingham, Anders Oldfors   +4 more
wiley   +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

P158: The diagnostic odyssey: A review of two patients with adult polyglucosan body disease

Genetics in Medicine Open, 2023
Anusha Ebrahim, Daniel Benavides, Camilo Toro, Colleen Wahl, William Gahl   +4 more
doaj   +1 more source

Characterization of cognitive impairment in adult polyglucosan body disease. [PDF]

J Neurol, 2022
Zebhauser PT, Cordts I, Hengel H, Haslinger B, Lingor P, Akman HO, Haack TB, Deschauer M.   +7 more
europepmc   +1 more source

O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*

Genetics in Medicine Open, 2023
Rebecca Koch, Claudia Soler-Alfonso, Bridget Kiely, Akihiro Asai, Ariana Smith, Deeksha Bali, Peter Kang, Andrew Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer Orthmann-Murphy, Deberah Goldman, Surekha Pendyal, Areeg El-Gharbawy, Stephanie Austin, Laura Case, Raphael Schiffmann, Michio Hirano, Priya Kishnani   +18 more
doaj   +1 more source

Guaiacol as a drug candidate for treating adult polyglucosan body disease. [PDF]

JCI Insight, 2018
Kakhlon O, Ferreira I, Solmesky LJ, Khazanov N, Lossos A, Alvarez R, Yetil D, Pampou S, Weil M, Senderowitz H, Escriba P, Yue WW, Akman HO.   +12 more
europepmc   +1 more source