Publications by authors named "Muhammad Mahajnah"

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Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50.
Eyal Paz, Sahil Jain, Irit Gottfried, Orna Staretz-Chacham, Muhammad Mahajnah

Elife· December 2024

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An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New Gene Variants.
Rajech Sharkia, Marie-Laure Vuillaume, Sahil Jain, Muhammad Mahajnah, Radka Stoeva

Genes (Basel)· November 2024

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Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50.
Eyal Paz, Sahil Jain, Irit Gottfried, Orna Staretz-Chacham, Muhammad Mahajnah

bioRxiv· September 2024

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-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses.
Rajech Sharkia, Abdelnaser Zalan, Amit Kessel, Wasif Al-Shareef, Hazar Zahalka, Muhammad Mahajnah

Genes (Basel)· June 2024

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High CCL2 Levels Detected in CSF of Patients with Pediatric Pseudotumor Cerebri Syndrome.
Jacob Genizi, Lotan Berger, Muhammad Mahajnah, Yulia Shlonsky, Orit Golan-Shany

Children (Basel)· June 2023

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Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.
Rajech Sharkia, Sahil Jain, Muhammad Mahajnah, Clair Habib, Abdussalam Azem

Genes (Basel)· April 2023

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Prospective, Cross-Sectional Study Finds No Common Viruses in Cerebrospinal Fluid of Children with Pseudotumor Cerebri.
Rony Cohen, Muhammad Mahajnah, Yulia Shlonsky, Orit Golan-Shany, Azriel Romem

Brain Sci· February 2023

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The prevailing trend of consanguinity in the Arab society of Israel: is it still a challenge?
Rajech Sharkia, Mohammad Khatib, Ahmad Sheikh-Muhammad, Muhammad Mahajnah, Abdelnaser Zalan

J Biosoc Sci· January 2023

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Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.
Rajech Sharkia, Abdelnaser Zalan, Hazar Zahalka, Amit Kessel, Ayman Asaly, Muhammad Mahajnah

Genes (Basel)· August 2022

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Multidomain Cognitive Impairment in Children With Pseudotumor Cerebri Syndrome.
Muhammad Mahajnah, Ariel T Suchi, Hazar Zahakah, Rajech Sharkia, Shaden R Shuhaiber

J Neuroophthalmol· March 2022

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Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Holger Hengel, Rebecca Buchert, Marc Sturm, Tobias B Haack, Yvonne Schelling, Muhammad Mahajnah

Eur J Hum Genet· February 2022

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Modeling genetic epileptic encephalopathies using brain organoids.
Daniel J Steinberg, Srinivasarao Repudi, Afifa Saleem, Irina Kustanovich, Sergey Viukov, Muhammad Mahajnah

EMBO Mol Med· August 2021

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Corrigendum to "Absence seizure provocation during routine EEG: Does position of the child during hyperventilation affect diagnostic yield?" [Seizure 79 (2020) 86-89].
Tal Rozenblat, Dror Kraus, Muhammad Mahajnah, Hadassah Goldberg-Stern, Nathan Watemberg

Seizure· January 2021

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Pseudotumor Cerebri Syndrome in Young Children: What Is the Difference From Adults?
Jacob Genizi, Muhammad Mahajnah

J Child Neurol· November 2020

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Gene and Protein Expression in Subjects With a Nystagmus-Associated AHR Mutation.
Natalia Borovok, Celeste Weiss, Rajech Sharkia, Michal Reichenstein, Bernd Wissinger, Muhammad Mahajnah

Front Genet· September 2020

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First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Holger Hengel, Rebecca Buchert, Marc Sturm, Tobias B Haack, Yvonne Schelling, Muhammad Mahajnah

Eur J Hum Genet· August 2020

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Absence seizure provocation during routine EEG: Does position of the child during hyperventilation affect the diagnostic yield?
Tal Rozenblat, Dror Kraus, Muhammad Mahajnah, Hadassah Goldberg-Stern, Nathan Watemberg

Seizure· July 2020

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Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.
Anja K Mayer, Ghassan Balousha, Rajech Sharkia, Muhammad Mahajnah, Suhail Ayesh

Eur J Hum Genet· June 2020

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Pseudotumor Cerebri Syndrome: From Childhood to Adulthood Risk Factors and Clinical Presentation.
Muhammad Mahajnah, Jacob Genizi, Hazar Zahalka, Ronza Andreus, Nathanel Zelnik

J Child Neurol· April 2020

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Pre-endoscopic tachycardia predicts increased sedation dose and lower adenoma detection rate in patients undergoing endoscopic procedures: a case control study.
Amir Mari, Tawfik Khoury, Muhammad Mahajnah, Anas Kadah, Helal S Ahmad

Minerva Med· April 2020

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A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy.
Malay Patra, Celeste Weiss, Bassam Abu-Libdeh, Motee Ashhab, Shadi Abuzer, Muhammad Mahajnah

Eur J Hum Genet· July 2019

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A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.
Rajech Sharkia, Abdelnaser Zalan, Azhar Jabareen-Masri, Holger Hengel, Ludger Schöls, Muhammad Mahajnah

Am J Med Genet A· July 2019

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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
Anja K Mayer, Muhammad Mahajnah, Mervyn G Thomas, Yuval Cohen, Adib Habib

Brain· June 2019

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Exploration of Risk Factors for Type 2 Diabetes among Arabs in Israel.
Rajech Sharkia, Ahmad Sheikh-Muhammad, Muhammad Mahajnah, Mohammad Khatib, Abdelnaser Zalan

Ann Glob Health· May 2019

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Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
Rajech Sharkia, Klaas J Wierenga, Amit Kessel, Abdussalam Azem, Enrico Bertini, Muhammad Mahajnah

J Inherit Metab Dis· March 2019

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