Search Results - "Nilipour, Y."

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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Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 by Hedberg-Oldfors, Carola, Abramsson, Alexandra, Osborn, Daniel P S, Danielsson, Olof, Fazlinezhad, Afsoon, Nilipour, Yalda, Hübbert, Laila, Nennesmo, Inger, Visuttijai, Kittichate, Bharj, Jaipreet, Petropoulou, Evmorfia, Shoreim, Azza, Vona, Barbara, Ahangari, Najmeh, López, Marcela Dávila, Doosti, Mohammad, Banote, Rakesh Kumar, Maroofian, Reza, Edling, Malin, Taherpour, Mehdi, Zetterberg, Henrik, Karimiani, Ehsan Ghayoor, Oldfors, Anders, Jamshidi, Yalda

“…Abstract Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, yet the genetic cause of up to 50% of cases remains unknown…”
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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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Increased number of regulatory T cells in esophageal tissue of patients with eosinophilic esophagitis in comparison to gastro esophageal reflux disease and control groups by Mousavinasab, F, Babaie, D, Nilipour, Y, Mansouri, M, Imanzadeh, F, Dara, N, Rohani, P, Khatami, K, Sayyari, A, Khoddami, M, Kazemiaghdam, M, Mesdaghi, M

“…Eosinophilic esophagitis (EoE) is a primarily polygenic allergic disorder. Although most patients have IgE sensitization, it seems that non-IgE mediated…”
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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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A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran [Corrigendum] by Shervin Badv, Reza, Nilipour, Yalda, Rahimi-Dehgolan, Shahram, Rashidi-Nezhad, Ali, Ghahvechi Akbari, Masood

“…Shervin Badv R, Nilipour Y, Rahimi-Dehgolan S, Rashidi-Nezhad A, Ghahvechi Akbari M. Int Med Case Rep J. 2019;12:155-159. We have been advised by an author of…”
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494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation by Tavasoli, A., Vahidnezhad, H., Youssefian, L., Saeidian, A., Rouhani, M., Nilipour, Y., Mahmoudi, H., Uitto, J.

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Cytological findings of a primitive neuroectodermal tumour presenting as a parotid mass by Kadivar, M., Nilipour, Y., Mehdizadeh, J., Kumar, P. V.

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P.168 - 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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Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations by Guergueltcheva, Velina, Müller, Juliane S., Dusl, Marina, Senderek, Jan, Oldfors, Anders, Lindbergh, Christopher, Maxwell, Susan, Colomer, Jaume, Mallebrera, Cecilia Jimenez, Nascimento, Andres, Vilchez, Juan J., Muelas, Nuria, Kirschner, Janbernd, Nafissi, Shahriar, Kariminejad, Ariana, Nilipour, Yalda, Bozorgmehr, Bita, Najmabadi, Hossein, Rodolico, Carmelo, Sieb, Jörn P., Schlotter, Beate, Schoser, Benedikt, Herrmann, Ralf, Voit, Thomas, Steinlein, Ortrud K., Najafi, Abdolhamid, Urtizberea, Andoni, Soler, Doriette M., Muntoni, Francesco, Hanna, Michael G., Chaouch, Amina, Straub, Volker, Bushby, Kate, Palace, Jacqueline, Beeson, David, Abicht, Angela, Lochmüller, Hanns

“…Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the neuromuscular junction. A difficult to…”
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A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran by Shervin Badv, Reza, Nilipour, Yalda, Rahimi-Dehgolan, Shahram, Rashidi-Nezhad, Ali, Ghahvechi Akbari, Masood

“…Spinal muscular atrophy (SMA) is a disorder characterized by decreased motor function due to the muscle atrophy in the background of degenerated anterior horn…”
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A Mitochondrial Disorder in a Middle Age Iranian Patient: Report of a Rare Case by Almasi, Mostafa, Motamed, Mohammad Reza, Mehrpour, Masoud, Haghi-Ashtiani, Bahram, Fahimeh Haji Akhondi, Nilipour, Yalda, Seyed-Mohammad Fereshtehnejad

“…Introduction: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can involve multiple systems and cause stroke-like episodes and…”
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Tumors of the Central Nervous System: An 18-Year Retrospective Review in a Tertiary Pediatric Referral Center by Aghayan Golkashani, Hosein, Hatami, Hossein, Farzan, Abdonaser, Mohammadi, Hassan Reza, Nilipour, Yalda, Khoddami, Maliheh, Jadali, Farzaneh

“…Few studies exist on the demographics and trends of pediatric central nervous system (CNS) tumors in Iran. In this study, we retrospectively reviewed all…”
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Diagnosis: Oral leishmaniasis by Azizi, Taghi, Sadeghipour, Alireza, Roohi, Aliasghar, Nilipour, Yalda

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A 33-year-old male farmer with progressive gingival swelling and bleeding by Azizi, Taghi, Sadeghipour, Alireza, Roohi, Aliasghar, Nilipour, Yalda

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Primary localized nasal amyloidosis in a child, a rare case report by Sadeghipour, A., Mirzaie, A. Zare, Mohammadi, Sh, Nilipour, Y.

“…Primary localized amyloidosis of sinonasal tract is an extremely rare disease with only 24 reported cases in English literature. The age of patients range from…”
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Cytological findings of a primitive neuroectodermal tumour presenting as a parotid mass by Kadivar, M, Nilipour, Y, Mehdizadeh, J, Kumar, P V

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