Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies von 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.

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Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 von 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

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Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) von Fatehi, F., Okhovat, A. A., Nilipour, Y., Mroczek, M., Straub, V., Töpf, A., Palibrk, A., Peric, S., Rakocevic Stojanovic, V., Najmabadi, H., Nafissi, S.

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Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population von 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.

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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 von Mousavinasab, F, Babaie, D, Nilipour, Y, Mansouri, M, Imanzadeh, F, Dara, N, Rohani, P, Khatami, K, Sayyari, A, Khoddami, M, Kazemiaghdam, M, Mesdaghi, M

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Ryanodine receptor type 3 (RYR3) as a novel gene associated with nemaline myopathy and fibre type disproportion von 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] von Shervin Badv, Reza, Nilipour, Yalda, Rahimi-Dehgolan, Shahram, Rashidi-Nezhad, Ali, Ghahvechi Akbari, Masood

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494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation von Tavasoli, A., Vahidnezhad, H., Youssefian, L., Saeidian, A., Rouhani, M., Nilipour, Y., Mahmoudi, H., Uitto, J.

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A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran von Shervin Badv, Reza, Nilipour, Yalda, Rahimi-Dehgolan, Shahram, Rashidi-Nezhad, Ali, Ghahvechi Akbari, Masood

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P.168 - Ryanodine receptor type 3 (RYR3) as a novel gene associated with nemaline myopathy and fibre type disproportion von Nilipour, Y., Nafissi, S., Varasteh, V., Hossein-Nejad, H., Tonekaboni, S., Ravenscroft, G., Olivé, M., Laing, N., Tajsharghi, H.

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

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Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations von 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

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A Mitochondrial Disorder in a Middle Age Iranian Patient: Report of a Rare Case von Almasi, Mostafa, Motamed, Mohammad Reza, Mehrpour, Masoud, Haghi-Ashtiani, Bahram, Fahimeh Haji Akhondi, Nilipour, Yalda, Seyed-Mohammad Fereshtehnejad

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Tumors of the Central Nervous System: An 18-Year Retrospective Review in a Tertiary Pediatric Referral Center von Aghayan Golkashani, Hosein, Hatami, Hossein, Farzan, Abdonaser, Mohammadi, Hassan Reza, Nilipour, Yalda, Khoddami, Maliheh, Jadali, Farzaneh

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

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Diagnosis: Oral leishmaniasis von Azizi, Taghi, Sadeghipour, Alireza, Roohi, Aliasghar, Nilipour, Yalda

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BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes von Khani, M, Shamshiri, H, Taheri, H, Hardy, J, Bras, JT, Carmona, S, Moazzeni, H, Alavi, A, Heshmati, A, Taghizadeh, P, Nilipour, Y, Ghazanfari, T, Shahabi, M, Okhovat, AA, Rohani, M, Valle, G, Boostani, R, Abdi, S, Eshghi, S, Nafissi, S, Elahi, E

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Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 von Hedberg-Oldfors, C, Abramsson, A, Osborn, DPS, Danielsson, O, Fazlinezhad, A, Nilipour, Y, Hübbert, L, Nennesmo, I, Visuttijai, K, Bharj, J, Petropoulou, E, Shoreim, A, Vona, B, Ahangari, N, López, MD, Doosti, M, Banote, RK, Maroofian, R, Edling, M, Taherpour, M, Zetterberg, H, Karimiani, EG, Oldfors, A, Jamshidi, Y

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

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

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