S Nafissi
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Explore the profile of S Nafissi including associated specialties, affiliations and a list of published articles.
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Articles
10
Citations
135
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0
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Recent Articles
1.
Fatehi F, Okhovat A, Nilipour Y, Mroczek M, Straub V, Topf A, et al.
Eur J Neurol
. 2020 Jun;
27(11):2257-2266.
PMID: 32558070
Background And Purpose: Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a hereditary disorder of mitochondrial long-chain fatty acid oxidation that has variable presentations, including exercise intolerance, cardiomyopathy and liver disease. The...
2.
Servian-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, et al.
Acta Neuropathol
. 2020 Jan;
139(3):565-582.
PMID: 31897643
Protein O-glucosyltransferase 1 (POGLUT1) activity is critical for the Notch signaling pathway, being one of the main enzymes responsible for the glycosylation of the extracellular domain of Notch receptors. A...
3.
Nilipour Y, Nafissi S, Tjust A, Ravenscroft G, Hossein Nejad Nedai H, Taylor R, et al.
Eur J Neurol
. 2018 Mar;
25(6):841-847.
PMID: 29498452
Background And Purpose: Nemaline myopathy (NEM) has been associated with mutations in 12 genes to date. However, for some patients diagnosed with NEM, definitive mutations are not identified in the...
4.
Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, et al.
Clin Genet
. 2016 May;
91(3):386-402.
PMID: 27234031
Neuromuscular diseases (NMDs) include a broad range of disorders affecting muscles, nerves and neuromuscular junctions. Their overlapping phenotypes and heterogeneous genetic nature have created challenges in diagnosis which calls for...
5.
Wargon I, Richard P, Kuntzer T, Sternberg D, Nafissi S, Gaudon K, et al.
Neuromuscul Disord
. 2011 Nov;
22(4):318-24.
PMID: 22088788
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (COlQ) cause recessive forms of...
6.
Ayatollahi P, Nafissi S, Eshraghian M, Kaviani H, Tarazi A
Mult Scler
. 2007 Apr;
13(2):275-7.
PMID: 17439899
Multiple sclerosis (MS) can influence all aspects of a patient's health. This study determines the main factors affecting quality of life (QoL) in Iranian MS patients. QoL (Multiple Sclerosis Impact...
7.
Feugier P, Guerci A, Nafissi S, Lederlin P
Rev Med Interne
. 1996 Jan;
17(11):924-8.
PMID: 8977973
Unifocal and multifocal eosinophilic granuloma are Langerhans cell histiocytosis of unknown cause. Over the last 10 years, recent insights in pathogenesis and characterization of this pathology have been made. The...
8.
Le Pennec P, Tissier A, Mannessier L, Agulles O, Babinet J, Bidet M, et al.
Transfus Clin Biol
. 1996 Jan;
3(3):157-65.
PMID: 8925110
Blood transfusion is mainly bound to immunological and infectious risks. The immunological risk originates from an incompatibility between the blood of the donor and that of the recipient; this risk...
9.
Kauffmann F, Frette C, Pham Q, Nafissi S, Bertrand J, Oriol R
Am J Respir Crit Care Med
. 1996 Jan;
153(1):76-82.
PMID: 8542166
Discordant results have been observed regarding the associations of chronic obstructive pulmonary diseases with secretor, Lewis, and ABO histo-blood groups, which are defined by glycosyltransferases. These enzymes build up oligosaccharide...
10.
Kauffmann F, Frette C, Pham Q, Nafissi S, Bertrand J, Oriol R
Lancet
. 1993 Mar;
341(8848):836-7.
PMID: 8096043
No abstract available.