Search Results - "Nafissi, S."

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies by Nilipour, Y., Nafissi, S., Tjust, A. E., Ravenscroft, G., Hossein Nejad Nedai, H., Taylor, R. L., Varasteh, V., Pedrosa Domellöf, F., Zangi, M., Tonekaboni, S. H., Olivé, M., Kiiski, K., Sagath, L., Davis, M. R., Laing, N. G., Tajsharghi, H.

“…Background and purpose Nemaline myopathy (NEM) has been associated with mutations in 12 genes to date. However, for some patients diagnosed with NEM,…”
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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern by Servián-Morilla, E., Cabrera-Serrano, M., Johnson, K., Pandey, A., Ito, A., Rivas, E., Chamova, T., Muelas, N., Mongini, T., Nafissi, S., Claeys, K. G., Grewal, R. P., Takeuchi, M., Hao, H., Bönnemann, C., Lopes Abath Neto, O., Medne, L., Brandsema, J., Töpf, A., Taneva, A., Vilchez, J. J., Tournev, I., Haltiwanger, R. S., Takeuchi, H., Jafar-Nejad, H., Straub, V., Paradas, Carmen

“…Protein O -glucosyltransferase 1 (POGLUT1) activity is critical for the Notch signaling pathway, being one of the main enzymes responsible for the…”
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Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population by Fattahi, Z., Kalhor, Z., Fadaee, M., Vazehan, R., Parsimehr, E., Abolhassani, A., Beheshtian, M., Zamani, G., Nafissi, S., Nilipour, Y., Akbari, M.R., Kahrizi, K., Kariminejad, A., Najmabadi, H.

“…Neuromuscular diseases (NMDs) include a broad range of disorders affecting muscles, nerves and neuromuscular junctions. Their overlapping phenotypes and…”
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Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) by Fatehi, F., Okhovat, A. A., Nilipour, Y., Mroczek, M., Straub, V., Töpf, A., Palibrk, A., Peric, S., Rakocevic Stojanovic, V., Najmabadi, H., Nafissi, S.

“…Background and purpose Very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) is a hereditary disorder of mitochondrial long‐chain fatty acid oxidation…”
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Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations by Wargon, I, Richard, P, Kuntzer, T, Sternberg, D, Nafissi, S, Gaudon, K, Lebail, A, Bauche, S, Hantaï, D, Fournier, E, Eymard, B, Stojkovic, T

“…Abstract Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular…”
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P53: Blink reflex: differentiating between Alzheimer disease and vascular dementia by Fatehi, F, Nafissi, S, Noroozian, M, Mohammadian, F

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26 years' experience in myasthenia gravis in Iran by Omidi, S. Jamal, Nafissi, S, Fatehi, F

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Cryopreservation as a way to maintain extracorporeal photopheresis regimen for GvHD treatment while circumventing patient temporary inability to undergo apheresis by Pochon, C, Reppel, L, Halle, P, Zang, A, Clément, L, Michel, D, Perrot, A, Roth-Guépin, G, Detrait, M, Kanold, J, Rouel, N, Donzé, B, Décot, V, Mathieu-Nafissi, S, Merlin, E, Bensoussan, D

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Ryanodine receptor type 3 (RYR3) as a novel gene associated with nemaline myopathy and fibre type disproportion by Nilipour, Y, Nafissi, S, Varasteh, V, Hossein-Nejad, H, Tonekaboni, S, Ravenscroft, G, Olivé, M, Laing, N, Tajsharghi, H

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Therapeutic effects of repetitive transcranial magnetic stimulation on clinical symptoms and signs of patients with HTLV1 myelitis by Andad, M. Amiri, Nafissi, S, Fatehi, F, Amiri, M

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Detection of TRIM32 variants associated with LGMD2H in a large cohort of patients with unexplained limb-girdle weakness by Johnson, K, Töpf, A, Bertoli, M, Phillips, L, De Ridder, W, De Jonghe, P, Baets, J, Deconinck, T, Stojanovic, V.R, Peric, S, Durmus, H, Omidi, S, Nafissi, S, Lusakowska, A, Mongini, T, Lek, M, MacArthur, D.G, Straub, V

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Iran by Nafissi, S.

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Iran by Nafissi, S.

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P12-14 Melanoma associated CIDP, report of two new cases and literature review by Dbouk, M.B, Nafissi, S, Ghorbani, A

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P19-8 Brown-Vialetto-Van Laere: five sporadic cases from Iran by Yadegari, S, Nafissi, S, Soltanzadeh, A, Sikaroodi, H, Ghorbani, A

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Impact of depression and disability on quality of life in Iranian patients with multiple sclerosis by Ayatollahi, P, Nafissi, S, Eshraghian, MR, Kaviani, H, Tarazi, A

“…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…”
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P12-3 Electrophysiologic findings in Guillain Barré syndrome by Nafissi, S, Yadegari, S, Kazemi, N, Sikaroodi, H, Ghorbani, A, Soltanzadeh, A

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P5.17 Congenital Myasthenic Syndromes with COLQ mutations: Long term follow-up by Wargon, I, Richard, P, Kuntzer, T, Nafissi, S, Gaudon, K, Sternberg, D, Fournier, E, Gevin, A, Eymard, B, Stojkovic, T

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MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) by P. Ayatollahi, A. Tarazi S. Nafissi

“…Mitochondrial neurogastrointestinal encephalo-myopathy (MNGIE) is a rare autosomal recessive disease caused by thymidine phosphorylase (TP) gene mutation. Here…”
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HLA class II polymorphism contribution to disease severity and response to treatment in myasthenia gravis by Sinaei, F., Nafissi, S., Fatehi, F., Gharan, S. Oveis, Ehsan, S., Kamali, K., Mahmoudi, M.

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