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Author/Creator Khani, Marzieh

1. Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot–Marie–Tooth patients with TFG mutation. Issue 8 (20th May 2019)

Authors:
Khani, Marzieh; Taheri, Hanieh; Shamshiri, Hosein; Houlden, Henry; Efthymiou, Stephanie; Alavi, Afagh; Nafissi, Shahriar; Elahi, Elahe
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 8(2019)
Page Start:
1507
Record Type:
Journal Article
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2. Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations. Issue 7 (8th May 2020)

Authors:
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; Ela...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 7(2020)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Identification of UBA1 as the causative gene of an X‐linked non‐Kennedy spinal–bulbar muscular atrophy. (13th September 2022)

Authors:
Khani, Marzieh; Nafissi, Shahriar; Shamshiri, Hosein; Moazzeni, Hamidreza; Taheri, Hanieh; Sadeghi, Mehdi; Salehi, Najmeh; Chitsazian, Fereshteh; Elahi, Elahe
Journal:
European journal of neurology
Issue:
Volume 29:Number 12(2022)
Page Start:
3556
Record Type:
Journal Article
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7. Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family. Issue 11 (16th August 2019)

Authors:
Moazzeni, Hamidreza; Javadi, Mohammad Ali; Asgari, Danial; Khani, Marzieh; Emami, Mohammad; Moghadam, Abolfazl; Panahi-Bazaz, Mahmoud-Reza; Hosseini Tehrani, Mehdi; Karimian, Farid; Hosseini, Bagher; Nekuie Moghadam, Tayebeh; Hassanpour, Hossein; Akbari, Mohammad Taghi; Elahi, Elahe
Journal:
British journal of ophthalmology
Issue:
Volume 104:Issue 11(2020)
Page Start:
1621
Record Type:
Journal Article
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