The Most Common Treatable Neurometabolic Epilepsies in Children מאת Parvaneh Karimzadeh, Sasan Saket

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Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings מאת Parvaneh Karimzadeh, Sepideh Rezakhani, Mohammad Miryounesi, Sahar Alijanpour

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Ophthalmologic findings in patients with neuro-metabolic disorders מאת Narjes Jafari, Karl Golnik, Mansoor Shahriari, Parvaneh Karimzadeh, Sayena Jabbehdari

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A case of diffuse leptomeningeal glioneuronal tumor in a 10‐year‐old boy: First report from Iran מאת Parvaneh Karimzadeh, Yalda Nilipour, Mitra Khalili, Ali Nikkhah, Mehdi Taghavijelodar, Ehsan Moradi

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Risk factors of pediatric arterial ischemic stroke; A regional survey מאת Mohammad Ghofrani, Hassan Tonekaboni, Parvaneh Karimzadeh, Jafar Nasiri, Zahra Pirzadeh, Mohamadreza Ghazzavi, Omid Yghini

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Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review מאת Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolniková, Věra Malinová, Juan Torres, Stefan A. Kolb

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Comparison of Propranolol and Pregabalin for Prophylaxis of Childhood Migraine: a Randomised Controlled Trial מאת MohammadKazem Bakhshandeh Bali, Ali Akbar Rahbarimanesh, Manelie Sadeghi, Mostafa Sedighi, Parvaneh Karimzadeh, Mohammad Ghofrani

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Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective... מאת Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolnikova, Vera Malinova, Jose Luis Insua, Christian Velten, Stefan A. Kolb

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Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene מאת Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi

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The Prevalence of Serum Anti Nuclear Antibodies in Children Treated With Anti-Epileptics מאת Parvaneh Karimzadeh, Reza Shiari, Masoud Hassanvand Amouzadeh, Samane Rahimi, Shaghayegh Sadat Esmail Nejad, Seyed Mohammad Hashem Montazeri, Mohammad Hossein Arjmandnia

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Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review מאת Aysan Moeinafshar, Sahand Tehrani Fateh, Farzad Hashemi-Gorji, Parvaneh Karimzadeh, Elham Gholibeglou, Masoumeh Rostami, Hossein Sadeghi, Mohammad Miryounesi, Mohammad-Reza Ghasemi

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Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome מאת Fatemeh Norouzi Rostami, Hossein Sadeghi, Farzad Hashemi-Gorji, Sahand Tehrani Fateh, Reza Mirfakhraie, Parvaneh Karimzadeh, Milad Davarpanah, Sanaz Jamshidi, Rasoul Madannejad, Parinaz Moghimi, Mahdis Ekrami, Mohammad Miryounesi, Mohammad-Reza Ghasemi

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Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review מאת Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Aysan Moeinafshar, Hossein Sadeghi, Parvaneh Karimzadeh, Reza Mirfakhraie, Mitra Rezaei, Farzad Hashemi-Gorji, Morteza Rezvani Kashani, Fatemehsadat Fazeli Bavandpour, Saman Bagheri, Parinaz Moghimi, Masoumeh Rostami, Rasoul Madannejad, Hassan Roudgari, Mohammad Miryounesi

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Framework and overview of the Pediatric Spinal Muscular Atrophy Registry Program of Iran מאת Marzieh Babaee, Sara Vahidi Ara, Hossein Vahidi, Narjes Jafari, Vahide Zeinali, Nazanin Farahbakhsh, Saeed Sadr, Ghamartaj Khanbabaee, Seyed Ahmad Tabatabaii, Farzad Ahamdabadi, Mohammad Miryounesi, Seyed Saeed Hashemi Nazari, Seyed Mansoor Rayegani, Mohammad Mahdi Taghdiri, Parvaneh Karimzadeh, Mohammad Mehdi Nasehi, Najmeh Sadat Boland Nazar

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P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders מאת Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi

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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population מאת Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi

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