Results 161 to 170 of about 62,774 (200)

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

2014
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 ...
SAMPAOLO, Simone, Esposito T, Gianfrancesco F, Napolitano F, Lombardi L, Lucà R, Roperto F, DI IORIO, Giuseppe   +7 more
openaire   +1 more source

Sexual health among adolescent and young adult cancer survivors: A scoping review from the Children's Oncology Group Adolescent and Young Adult Oncology Discipline Committee

Ca-A Cancer Journal for Clinicians, 2021
Brooke Cherven, Sharon L Bober, Kristin M Bingen   +2 more
exaly  

Unifying the communities of early-onset glycogen storage disease type IV and adult polyglucosan body disease through a genetic prevalence study of GBE1-related disease

medRxiv
R. Koch, H. O. Akman, E. Chown, D. Goldman, J. Levenson, Q. Lu, L. T. Michalovicz Gill, M. Morgan, J. Orthmann-Murphy, N. T. Pires, R. Reef, H. Saxe, M. Singer-Berk, S. Baxter   +13 more
semanticscholar   +1 more source

13C-MR as a Diagnostic and Non-invasive Tool for Quantification of Brain Glycogen in Adult Polyglucosan Body Disease (APBD): A Pilot Case Study in Mouse

, 2021
T. Harris, Kumudesh Mishra, Hilla Vaknin, Aviva Friedman-Ezra, M. Weil, H. Rosenmann, O. Kakhlon   +6 more
semanticscholar   +1 more source

Adult polyglucosan body disease presenting as a unilateral progressive plexopathy.

Muscle & nerve, 2017
Adult polyglucosan body disease (APBD) usually presents with progressive spastic paraparesis, neurogenic bladder, and distal lower limb sensory abnormalities. It is caused by mutations in the glycogen branching enzyme gene (GBE1).We describe a woman with an unusual phenotype manifesting as progressive left brachial more than lumbosacral plexopathies ...
Elie, Naddaf, Charles D, Kassardjian, Yasemin Gulcan, Kurt, Hasan Orhan, Akman, Anthony J, Windebank   +4 more
openaire   +1 more source

Older adult participation in cancer clinical trials: A systematic review of barriers and interventions

Ca-A Cancer Journal for Clinicians, 2021
Mina S Sedrak, Rachel A Freedman, Aminah Jatoi   +2 more
exaly  

Integrative oncology: Addressing the global challenges of cancer prevention and treatment

Ca-A Cancer Journal for Clinicians, 2022
Jun J Mao,, Msce, Lorenzo Cohen, Karen M Mustian   +2 more
exaly  

Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease

Journal of Neurological Sciences
Genevieve E. Wilson, Deberah S. Goldman, Harriet Saxe, Xiaochun Li, Judith D. Goldberg, Heather A. Lau, Nicolas J. Abreu   +6 more
semanticscholar   +1 more source

Adult Polyglucosan Body Disease Presenting with Visual Snow as the Initial Symptom

Neuro-ophthalmology (Aeolus Press. 1980)
Ryan Skowronek, Joseph R. Corner, Sean Beach, Swathi Beladakere Ramaswamy   +3 more
semanticscholar   +1 more source

Soft‐tissue sarcoma in adults: An update on the current state of histiotype‐specific management in an era of personalized medicine

Ca-A Cancer Journal for Clinicians, 2020
Adriana C Gamboa, Alessandro Gronchi, Kenneth Cardona, Facs   +2 more
exaly