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Antioxidants (Basel, Switzerland)|January 28, 2026
Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked DefectsYarden Haham Zarbib, Shira Huri Ohev-Shalom, Shani Kassia Lyskov, et al.Epilepsia|May 19, 2007
Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutationCristina Gomez-Abad, Zaid Afawi, Amos D Korczyn, et al.Neurogenetics|January 1, 2013
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotypeCarlo C Quattrocchi, Ginevra Zanni, Antonio Napolitano, et al.Orphanet Journal of Rare Diseases|September 9, 2021
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in IsraelEyal Kristal, Ben Pode-Shakked, Guy Hazan, et al.Annals of Neurology|September 1, 2017
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictorsJuan Darío Ortigoza-Escobar, Majid Alfadhel, Marta Molero-Luis, et al.American Journal of Medical Genetics. Part A|March 23, 2017
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathyRajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, et al.Neuromuscular Disorders : NMD|December 28, 2016
Congenital myasthenic syndrome in Israel: Genetic and clinical characterizationSharon Aharoni, Menachem Sadeh, Yehuda Shapira, et al.American Journal of Human Genetics|July 31, 2012
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutationOfer Sarig, Sagi Nahum, Debora Rapaport, et al.Journal of Inherited Metabolic Disease|May 23, 2026
Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-MannosidosisDominik Dörfel, Benjamin Dreyer, Mona Lindschau, et al.American Journal of Human Genetics|April 29, 2008
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesisJanna Nousbeck, Ronen Spiegel, Akemi Ishida-Yamamoto, et al.Pageof 11