Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation von Khani, Marzieh, Taheri, Hanieh, Shamshiri, Hosein, Moazzeni, Hamidreza, Hardy, John, Bras, Jose Tomas, InanlooRahatloo, Kolsoum, Alavi, Afagh, Nafissi, Shahriar, Elahi, Elahe

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Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitorin... von Pogoryelova, Oksana, Cammish, Phillip, Mansbach, Hank, Argov, Zohar, Nishino, Ichizo, Skrinar, Alison, Chan, Yiumo, Nafissi, Shahriar, Shamshiri, Hosein, Kakkis, Emil, Lochmüller, Hanns

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Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations von Khani, Marzieh, Shamshiri, Hosein, Alavi, Afagh, Nafissi, Shahriar, Elahi, Elahe

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Identification of a mutation in TNRC18 in a patient with clinical features of Fazio‐Londe disease von Khani, Marzieh, Shamshiri, Hosein, Nafissi, Shahriar, Salehi, Najmeh, Moazzeni, Hamidreza, Taheri, Hanieh, Elahi, Elahe

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Iranian clinical practice guideline for amyotrophic lateral sclerosis von Boostani, Reza, Olfati, Nahid, Shamshiri, Hosein, Salimi, Zanireh, Fatehi, Farzad, Hedjazi, Seyed Arya, Fakharian, Atefeh, Ghasemi, Majid, Okhovat, Ali Asghar, Basiri, Keivan, Haghi Ashtiani, Bahram, Ansari, Behnaz, Raissi, Gholam Reza, Khatoonabadi, Seyed Ahmadreza, Sarraf, Payam, Movahed, Sara, Panahi, Akram, Ziaadini, Bentolhoda, Yazdchi, Mohammad, Bakhtiyari, Jalal, Nafissi, Shahriar

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Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations von Khani, Marzieh, Shamshiri, Hosein, Fatehi, Farzad, Rohani, Mohammad, Haghi Ashtiani, Bahram, Akhoundi, Fahimeh Haji, Alavi, Afagh, Moazzeni, Hamidreza, Taheri, Hanieh, Ghani, Mina Tolou, Javanparast, Leila, Hashemi, Seyyed Saleh, Haji‐Seyed‐Javadi, Ramona, Heidari, Matineh, Nafissi, Shahriar, Elahi, Elahe

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An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report von Alavi, Afagh, Khani, Marzieh, Nafissi, Shahriar, Shamshiri, Hosein, Elahi, Elahe

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Identification of UBA1 as the causative gene of an X‐linked non‐Kennedy spinal–bulbar muscular atrophy von Khani, Marzieh, Nafissi, Shahriar, Shamshiri, Hosein, Moazzeni, Hamidreza, Taheri, Hanieh, Sadeghi, Mehdi, Salehi, Najmeh, Chitsazian, Fereshteh, Elahi, Elahe

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Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients von Khani, Marzieh, Alavi, Afagh, Shamshiri, Hosein, Zamani, Babak, Hassanpour, Hosein, Kazemi, Mohammad Hossein, Nafissi, Shahriar, Elahi, Elahe

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Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot–Marie–Tooth patients with TFG mutation von Khani, Marzieh, Taheri, Hanieh, Shamshiri, Hosein, Houlden, Henry, Efthymiou, Stephanie, Alavi, Afagh, Nafissi, Shahriar, Elahi, Elahe

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A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome von Khani, Marzieh, Shamshiri, Hosein, Moazzeni, Hamidreza, Taheri, Hanieh, Ahmadieh, Hamid, Alavi, Afagh, Farboodi, Niloofar, Nafissi, Shahriar, Elahi, Elahe

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Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients von Alavi, Afagh, Nafissi, Shahriar, Rohani, Mohammad, Shahidi, Gholamali, Zamani, Babak, Shamshiri, Hosein, Safari, Iman, Elahi, Elahe

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Deep geno- and phenotyping in two consanguineous families with CMT2 revealsHADHAas an unusual disease-causing gene and an intronic variant inGDAP1as an unusual mutation von Khani, Marzieh, Taheri, Hanieh, Shamshiri, Hosein, Moazzeni, Hamidreza, Hardy, John, Bras, Jose Tomas, InanlooRahatloo, Kolsoum, Alavi, Afagh, Nafissi, Shahriar, Elahi, Elahe

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BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes von Khani, Marzieh, Shamshiri, Hosein, Taheri, Hanieh, Hardy, John, Bras, Jose Tomas, Carmona, Susana, Moazzeni, Hamidreza, Alavi, Afagh, Heshmati, Ali, Taghizadeh, Peyman, Nilipour, Yalda, Ghazanfari, Tooba, Shahabi, Majid, Okhovat, Ali Asghar, Rohani, Mohammad, Valle, Giorgio, Boostani, Reza, Abdi, Siamak, Eshghi, Shaghayegh, Nafissi, Shahriar, Elahi, Elahe

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Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations von Sabeghi, Donya, InanlooRahatloo, Kolsoum, Mirzadeh, Hanieh S., Khani, Marzieh, Shamshiri, Hosein, Taghavi, Tarannomsadat, Alavi, Afagh, Boostani, Reza, Tonekaboni, Seyed Hassan, Akhondian, Javad, Ebrahimi, Masoomah, Salehi, Najmeh, Nafissi, Shahriar, Elahi, Elahe

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Trends of quality of life changes in amyotrophic lateral sclerosis patients von Shamshiri, Hosein, Fatehi, Farzad, Abolfazli, Roya, Harirchian, Mohammad Hossein, Sedighi, Behnaz, Zamani, Babak, Roudbari, Ali, Razazian, Nazanin, Khamseh, Fatemeh, Nafissi, Shahriar

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HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry von Alavi, Afagh, Shamshiri, Hosein, Nafissi, Shahriar, Khani, Marzieh, Klotzle, Brandy, Fan, Jian-Bing, Steemers, Frank, Elahi, Elahe

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Genetics of GNE myopathy in the non-Jewish Persian population von Haghighi, Alireza, Nafissi, Shahriar, Qurashi, Abrar, Tan, Zheng, Shamshiri, Hosein, Nilipour, Yalda, Haghighi, Amirreza, Desnick, Robert J, Kornreich, Ruth

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Thigh and Leg Muscle MRI Findings in GNE Myopathy von Fatehi, Farzad, Advani, Soroor, Okhovat, Ali Asghar, Ziaadini, Bentolhoda, Shamshiri, Hosein, Nafissi, Shahriar

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Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients von Alavi, Afagh, Nafissi, Shahriar, Rohani, Mohammad, Zamani, Babak, Sedighi, Behnaz, Shamshiri, Hosein, Fan, Jian-Bing, Ronaghi, Mostafa, Elahi, Elahe

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