Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Sergiu C. Blumen"'
Publikováno v:
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India. 74(Suppl 2)
Cricopharyngeal muscle myotomy (CPM) is a common intervention for relief of dysphagia in patients with Oculo-pharyngeal muscular dystrophy (OPMD). Because of difficulties in approaching and dissecting cricopharyngeal muscle in these patients, we used
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f681c4124d6fc0addc1579dc33ed502e
https://pubmed.ncbi.nlm.nih.gov/36452790
https://pubmed.ncbi.nlm.nih.gov/36452790
Autor:
Ido Perlman, Hadas Newman, Sergiu C Blumen, Itzhak Braverman, Tamar Ben-Yosef, Rana Hanna, Beatrice Tiosano
Publikováno v:
Investigative ophthalmologyvisual science. 57(13)
Purpose To investigate the genetic basis for severe visual complaints by Bukharan Jewish patients with oculopharyngeal muscular dystrophy (OPMD). Methods Polymerase chain reaction amplification and direct sequencing were used to test for NRL, PABPN1,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36ea046c84464bf3bef9259cf553bf27
https://pubmed.ncbi.nlm.nih.gov/27732723
https://pubmed.ncbi.nlm.nih.gov/27732723
Autor:
Louis Viollet, Ludivine Vignaud, Itzhak Braverman, R.L. Carasso, Anat Achiron, Stéphanie Astord, Valérie Robin, Michael Gurevich, Nava Blumen, Aurore Cieslik, Arnold Munich, Nawel Toumi, Martine Barkats, Sergiu C. Blumen
Publikováno v:
Annals of Neurology. 71:509-519
Objective: Distal hereditary motor neuropathies (dHMN) form a clinically and genetically heterogeneous group of disorders, characterized by muscle weakness and atrophy predominating at the distal part of the limbs, due to the progressive degeneration
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10046bce5949967a644658d7af256c4f
https://doi.org/10.1002/ana.22684
https://doi.org/10.1002/ana.22684
Autor:
M. Polay Espinoza, V. Strings, Pierre Klein, Susan Jarmin, Gonzalo Córdova, Vincent Mouly, David Suhy, Capucine Trollet, Kamel Mamchaoui, Gillian Butler-Browne, George Dickson, M. Graham, Sergiu C. Blumen, Alberto Malerba, Houria Bachtarzi, Arnaud Ferry, J. Lacau St Guily
Publikováno v:
Neuromuscular Disorders. 27:S245-S246
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::24a8780b6561a67e69d4fe3b587ae732
https://doi.org/10.1016/j.nmd.2017.06.541
https://doi.org/10.1016/j.nmd.2017.06.541
Autor:
Evan Reid, P. Nisipeanu, Aziz Mazarib, David Withers, Sergiu C. Blumen, Saif Abu-Mouch, Michael Kahana, Rifka Inzelberg, Simon Bevan, R.L. Carasso, Ruth Navon, David Negus, Ahmad Mahamid, Hanoch Slor
Publikováno v:
Annals of Neurology. 54:796-803
We updated the clinical features of a consanguineous Arab Israeli family, in which four of seven children were affected by spastic paraplegia complicated by skin pigmentary abnormalities. A genomewide linkage screen performed for the family identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd34edb478edee2bcf7c9f69585e64bd
https://doi.org/10.1002/ana.10768
https://doi.org/10.1002/ana.10768
Publikováno v:
Journal of the neurological sciences. 345(1-2)
Background The syndrome of isolated progressive upper-limb distal weakness and atrophy results from disease processes affecting lower motor neurons originating in the cervical anterior horn gray matter. Lower motor neuron dysfunction restricted to th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eab9635bf4d1b3e425b23a6c05c5127
https://pubmed.ncbi.nlm.nih.gov/25085761
https://pubmed.ncbi.nlm.nih.gov/25085761
Autor:
Sergiu C, Blumen, Anat, Kesler, Ron, Dabby, Stavit, Shalev, Morad, Khayat, Yechoshua, Almog, Joseph, Zoldan, Felix, Benninger, Vivian E, Drory, Michael, Gurevich, Menachem, Sadeh, Bernard, Brais, Itzhak, Braverman
Publikováno v:
The Israel Medical Association journal : IMAJ. 15(12)
Oculopharyngeal muscular dystrophy (OPMD) produced by the (GCG)13 expansion mutation in the PABPN1 gene is frequent among Uzbek Jews in Israel.To describe the phenotypic and genotypic features in five Bulgarian Jewish patients, from different familie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::501e75650f952fc2d7ec9c8b03393323
https://pubmed.ncbi.nlm.nih.gov/24449978
https://pubmed.ncbi.nlm.nih.gov/24449978
Autor:
H. Lavoie, Rivka Inzelberg, Bernard Brais, A. Asherov, P. Nisipeanu, R.L. Carasso, Guy A. Rouleau, Fernando M.S. Tomé, S. Medynski, Sergiu C. Blumen, Amos D. Korczyn, Joab Chapman, Jean-Pierre Bouchard
Publikováno v:
Neurology. 55:1267-1270
Objective: To determine whether all cases of oculopharyngeal muscular dystrophy (OPMD) among Bukhara Jews share the same founder mutation. Background: Autosomal dominant OPMD is caused by a (GCG) 8–13 repeat expansion in the polyadenylation binding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f816ab2d522e467834e7e40b5ddd91
https://doi.org/10.1212/wnl.55.9.1267
https://doi.org/10.1212/wnl.55.9.1267
Autor:
P. Nisipeanu, Bernard Brais, A. Asherov, François Codère, Joab Chapman, Michel Fardeau, Susan Medinsky, Jean-Pierre Bouchard, Sergiu C. Blumen, Amos D. Korczyn, Guy A. Rouleau, Fernando M.S. Tomé
Publikováno v:
Annals of Neurology. 46:115-118
Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) usually begins with ptosis or dysphagia during the fifth or sixth decade of life. We studied 7 patients with OPMD symptoms starting before the age of 36 years. All were found to be homozygo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43432af73604616e6f3afdf6548c0c83
https://doi.org/10.1002/1531-8249(199907)46:1<115::aid-ana17>3.0.co
https://doi.org/10.1002/1531-8249(199907)46:1<115::aid-ana17>3.0.co
Publikováno v:
Journal of the neurological sciences. 334(1-2)
Hirayama disease (HD) is a rare motor disorder mainly affecting young men, characterized by atrophy and weakness of forearm and hand muscles corresponding to a C7–T1 myotome distribution. The weakness is usually unilateral or asymmetric and progres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9154cf5144a0edd05bbaaedd872b346a
https://pubmed.ncbi.nlm.nih.gov/23962698
https://pubmed.ncbi.nlm.nih.gov/23962698