Publications by authors named "Ehsan Ghayoor Karimiani"

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Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin, Ehsan Ghayoor Karimiani

J Clin Invest· December 2025

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Case Report of Pediatric HPCA-Associated Dystonia: Analysis of Ca and K Channel Dynamics and Experience With Pallidal Deep Brain Stimulation.
Laia Nou-Fontanet, Jiraporn Ousingsawat, Majid Aziz, Reza Maroofian, Ehsan Ghayoor Karimiani

Pediatr Neurol· November 2025

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Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ehsan Ghayoor Karimiani

Ann Neurol· November 2025

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Ehsan Ghayoor Karimiani

Nat Genet· November 2025

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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.
Laura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Ehsan Ghayoor Karimiani

Am J Hum Genet· November 2025

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EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.
Saikat Ghosh, Jaskaran Singh, Nadirah S Damseh, Mariasavina Severino, Raffaella De Pace, Ehsan Ghayoor Karimiani

Brain· October 2025

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Biallelic variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.
Francesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, Dalila Moualek, Mariasavina Severino, Ehsan Ghayoor Karimiani

Brain Commun· October 2025

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ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Rhys Dore, Chu-Ting Chang, Amber Declève, Gloria Brunori, W Grant Ludlam, Ehsan Ghayoor Karimiani

Genet Med· September 2025

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Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients.
Pegah Beheshti, Fahimeh Akbarian, Emran Esmaeilzadeh, Hamid Galehdari, Mehdi Khorrami, Ehsan Ghayoor Karimiani

Clin Genet· September 2025

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Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.
Gregorio A Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Ehsan Ghayoor Karimiani

Ann Clin Transl Neurol· September 2025

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A programmed decline in ribosome levels governs human early neurodevelopment.
Chunyang Ni, Yudong Wei, Barbara Vona, Dayea Park, Yulei Wei, Ehsan Ghayoor Karimiani

Nat Cell Biol· August 2025

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Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Ehsan Ghayoor Karimiani

Brain· June 2025

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Hyper IgE Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review.
Mohammad Salehi, Zeinab Neshati, Hamid Ahanchian, Rana Tafrishi, Alireza Pasdar, Ehsan Ghayoor Karimiani

Health Sci Rep· March 2025

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Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in and Vici syndrome patients.
Celine Deneubourg, Hormos Salimi Dafsari, Simon Lowe, Aitana Martinez-Cotrina, David Mazaud, Ehsan Ghayoor-Karimiani

Autophagy· February 2025

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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Ehsan Ghayoor Karimiani

Genet Med· January 2025

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Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs.
Kejia Zhang, Aidan C Manning, Jenna M Lentini, Jonathan Howard, Felix Dalwigk, Ehsan Ghayoor Karimiani

Cell Rep· January 2025

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Biallelic variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Rauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, Askhat Mukushev, Akbota Zharylkassyn, Ehsan Ghayoor Karimiani

Brain Commun· December 2024

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Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.
Yuji Nakamura, Issei S Shimada, Reza Maroofian, Micol Falabella, Maha S Zaki, Ehsan Ghayoor Karimiani

Brain· November 2024

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Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.
Scott Barish, Sheng-Jia Lin, Reza Maroofian, Alper Gezdirici, Hamoud Alhebby, Ehsan Ghayoor Karimiani

Am J Hum Genet· November 2024

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Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report.
Bita Barazandeh Shirvan, Najmeh Ahangari, Razie Rezaie, Parvaneh Layegh, Ehsan Ghayoor Karimiani

BMC Pediatr· November 2024

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Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M Al Shamsi, Gehad ElGhazali, Maha S Zaki, Ehsan Ghayoor Karimiani

EBioMedicine· September 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Ehsan Ghayoor Karimiani

Am J Hum Genet· June 2024

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Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies.
Paria Najarzadeh Torbati, Mohammad Doosti, Payam Sarraf, Reza Boostani, Najmeh Ahangari, Ehsan Ghayoor Karimiani

Iran J Public Health· May 2024

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Brown-Vialetto-Van Laere syndrome.
Shima Imannezhad, Ehsan Ghayoor Karimiani, Majid Sezavar, Gholam Reza Khademi, Maryam Naseri

Iran J Child Neurol· March 2024

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Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.
Fatemeh Alipouran, Ehsan Ghayoor Karimiani, Jina Khayatzadeh

Rep Biochem Mol Biol· October 2023

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