Sergiu C. Blumen
Head And Neck Surgery
Hadera, HA, Israel
Hadera, HA, Israel
Last Updated: 09/26/2026
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Found 13 publications
Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination.
Journal: The EMBO journal
Published: July 06, 2023
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Journal: Acta neuropathologica
Published: June 15, 2022
Transillumination Assisted Cricopharyngeal Myotomy.
Journal: Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
Published: August 19, 2020
Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.
Journal: Genetic testing and molecular biomarkers
Published: June 08, 2017
Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.
Journal: Investigative ophthalmology & visual science
Published: October 13, 2016
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Journal: American journal of human genetics
Published: September 11, 2016
PABPN1 gene therapy for oculopharyngeal muscular dystrophy.
Journal: Nature communications
Published: July 08, 2016
Dynamic MRI testing of the cervical spine has prognostic significance in patients with progressive upper-limb distal weakness and atrophy.
Journal: Journal of the neurological sciences
Published: April 09, 2014
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?
Journal: The Israel Medical Association journal : IMAJ
Published: January 24, 2014
Effect of neck flexion on somatosensory and motor evoked potentials in Hirayama disease.
Journal: Journal of the neurological sciences
Published: March 07, 2013
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.
Journal: Neurology
Published: November 16, 2012
Last Updated: 09/26/2026