| Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect J Senderek, JS Müller, M Dusl, TM Strom, V Guergueltcheva, I Diepolder, ... The American Journal of Human Genetics 88 (2), 162-172, 2011 | 196 | 2011 |
| Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations V Guergueltcheva, JS Müller, M Dusl, J Senderek, A Oldfors, C Lindbergh, ... Journal of neurology 259, 838-850, 2012 | 100 | 2012 |
| An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies MR Ashrafi, M Amanat, M Garshasbi, R Kameli, Y Nilipour, M Heidari, ... Expert review of neurotherapeutics 20 (1), 65-84, 2020 | 84 | 2020 |
| Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population Z Fattahi, Z Kalhor, M Fadaee, R Vazehan, E Parsimehr, A Abolhassani, ... Clinical Genetics 91 (3), 386-402, 2017 | 52 | 2017 |
| Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 C Hedberg-Oldfors, A Abramsson, DPS Osborn, O Danielsson, ... Human molecular genetics 28 (11), 1919-1929, 2019 | 51 | 2019 |
| Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies Y Nilipour, S Nafissi, AE Tjust, G Ravenscroft, H Hossein Nejad Nedai, ... European journal of neurology 25 (6), 841-847, 2018 | 50 | 2018 |
| Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group MENA Pompe Working Group, F Al Jasmi, M Al Jumah, F Alqarni, ... BMC neurology 15, 1-17, 2015 | 47 | 2015 |
| Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome S Karkheiran, CE Krebs, V Makarov, Y Nilipour, B Hubert, H Darvish, ... Human genetics 132, 275-283, 2013 | 28 | 2013 |
| Massive ascites as the only sign of ovarian juvenile granulosa cell tumor in an adolescent: a case report and a review of the literature A Ashnagar, S Alavi, Y Nilipour, R Azma, F Falahati Case Reports in Oncological Medicine 2013 (1), 386725, 2013 | 26 | 2013 |
| Osteoclast-like giant-cell tumor of the parotid with salivary duct carcinoma: case report and cytologic, histologic, and immunohistochemical findings M Kadivar, Y Nilipour, A Sadeghipour Ear, Nose & Throat Journal 86 (10), 628-630, 2007 | 26 | 2007 |
| Genetics of GNE myopathy in the non-Jewish Persian population A Haghighi, S Nafissi, A Qurashi, Z Tan, H Shamshiri, Y Nilipour, ... European Journal of Human Genetics 24 (2), 243-251, 2016 | 25 | 2016 |
| LGMD2E is the most common type of sarcoglycanopathies in the Iranian population A Alavi, S Esmaeili, Y Nilipour, S Nafissi, SH Tonekaboni, G Zamani, ... Journal of neurogenetics 31 (3), 161-169, 2017 | 24 | 2017 |
| Recommendations for infantile-onset and late-onset Pompe disease: An Iranian consensus F Fatehi, MR Ashrafi, M Babaee, B Ansari, M Beiraghi Toosi, R Boostani, ... Frontiers in Neurology 12, 739931, 2021 | 22 | 2021 |
| Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy J Alonso-Pérez, L González-Quereda, C Bruno, C Panicucci, A Alavi, ... Brain 145 (2), 596-606, 2022 | 20 | 2022 |
| Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran Y Nilipour, F Fatehi, S Sanatinia, A Bradshaw, J Duff, H Lochmüller, ... Journal of the neurological sciences 411, 116707, 2020 | 18 | 2020 |
| Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families M Pashaei, A Davarzani, R Hajati, B Zamani, S Nafissi, F Larti, Y Nilipour, ... Journal of neurogenetics 35 (2), 84-94, 2021 | 16 | 2021 |
| Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family F Bitarafan, M Khodaeian, E Amjadi Sardehaei, FZ Darvishi, N Almadani, ... Molecular and cellular pediatrics 8, 1-8, 2021 | 15 | 2021 |
| Increased number of regulatory T cells in esophageal tissue of patients with eosinophilic esophagitis in comparison to gastro esophageal reflux disease and control groups F Mousavinasab, D Babaie, Y Nilipour, M Mansouri, F Imanzadeh, N Dara, ... Allergologia et Immunopathologia 47 (5), 431-436, 2019 | 15 | 2019 |
| A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran R Shervin Badv, Y Nilipour, S Rahimi-Dehgolan, A Rashidi-Nezhad, ... International Medical Case Reports Journal, 155-159, 2019 | 15 | 2019 |
| Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report M Mojbafan, ST Nojehdeh, F Rahiminejad, Y Nilipour, SH Tonekaboni, ... BMC Medical Genetics 21, 1-6, 2020 | 14 | 2020 |