RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Authors: Avinash V. Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah, Itaru Samejima, Yanwen Shen, Martin A. Wear, Kiara E. Moore, Elena Kondakova, Natalia Mitina, Theres Schaub, Grace K. Lee, Christine H. Umandap, Sara M. Berger, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Heinz Gabriel, Stefan Rentas, Alyssa L. Rippert, Christopher Gray, Kosuke Izumi, Laura K. Conlin, Daniel C. Koboldt, Theresa Mihalic Mosher, Scott E. Hickey, Dara V. F. Albert, Haley Norwood, Amy Feldman Lewanda, Hongzheng Dai, Pengfei Liu, Tadahiro Mitani, Dana Marafi, Hatice Koçak Eker, Davut Pehlivan, Jennifer E. Posey, Natalie C. Lippa, Natalie Vena, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, Jean-Madeleine de Sainte Agathe, Nouriya Abbas Al-Sannaa, Mina Zamani, Saeid Sadeghian, Reza Azizimalamiri, Tahere Seifia, Maha S. Zaki, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Lama Alabdi, Fowzan Sami Alkuraya, Heba Dawoud, Aya Lofty, Peter Bauer, Giovanni Zifarelli, Erum Afzal, Faisal Zafar, Stephanie Efthymiou, Daniel Gossett, Meghan C. Towne, Raey Yeneabat, Belen Perez-Duenas, Ana Cazurro-Gutierrez, Edgard Verdura, Veronica Cantarin-Extremera, Ana do Vale Marques, Aleksandra Helwak, David Tollervey, Sandeep N. Wontakal, Vimla S. Aggarwal, Jill A. Rosenfeld, Victor Tarabykin, Shinya Ohta, James R. Lupski, Henry Houlden, William C. Earnshaw, Erica E. Davis, A. Arockia Jeyaprakash, Jun Liao

Source: Nature Communications, Vol 16, Iss 1, Pp 1-24 (2025)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/860e70257811492c86104f77a86c65ba

Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

Authors: Stephanie Efthymiou, Wenyan Han, Muhammad Ilyas, Jun Li, Yichao Yu, Marcello Scala, Nancy T. Malintan, Nikoleta Vavouraki, Kshitij Mankad, Reza Maroofian, Clarissa Rocca, Vincenzo Salpietro, Shenela Lakhani, Eric J. Mallack, Timothy Blake Palculict, Hong Li, Guojun Zhang, Faisal Zafar, Nuzhat Rana, Noriko Takashima, Hayato Matsunaga, Claudia Manzoni, Pasquale Striano, Mark F. Lythgoe, Jun Aruga, Wei Lu, Henry Houlden

Source: Frontiers in Molecular Neuroscience, Vol 17 (2024)

Subject Terms: SLITRK3, GABAergic synapse development, epilepsy, global developmental delay, inhibitory synaptic transmission, NGS - next generation sequencing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2024.1222935/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/4c9fba0e92c64e6881b4e82760b9b3c3

Efficacy and safety of the ketogenic diet therapy in Pakistani children with refractory epilepsy

Authors: Naveed Anjum, Faisal Zafar, Muhammad Yousuf, Zia-ur-Rehman Khattak

Source: Khyber Medical University Journal, Vol 15, Iss 2, Pp 111-5 (2023)

Subject Terms: seizures, diet, ketogenic, children, drug resistant epilepsy, Medicine

File Description: electronic resource

Relation: https://www.kmuj.kmu.edu.pk/article/view/23082; https://doaj.org/toc/2305-2643; https://doaj.org/toc/2305-2651

Access URL: https://doaj.org/article/9e6162ee345344e1b06266f1b6c1b277

ROLE OF FOLINIC ACID IN IMPROVING THE ADAPTIVE SKILLS AND LANGUAGE IMPAIRMENT IN CHILDREN WITH AUTISM SPECTRUM DISORDER

Authors: Syed Fawad Saleem Shah, Nuzhar Noreen, Nadia Iqbal, Abdul Basit, Faisal Zafar, Erum Afzal

Source: Khyber Medical University Journal, Vol 13, Iss 4, Pp 197-200 (2021)

Subject Terms: leucovorin, folinic acid, behavioral therapy, language impairment, autism spectrum disorder, speech, verbal behavior, childhood autism rating scale, autism symptoms questionnaire, Medicine

File Description: electronic resource

Relation: https://www.kmuj.kmu.edu.pk/article/view/21782; https://doaj.org/toc/2305-2643; https://doaj.org/toc/2305-2651

Access URL: https://doaj.org/article/ad97308673414a0585d7b84386d24223

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

Authors: Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir, Henry Houlden

Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-8 (2020)

Subject Terms: Intellectual disability, VPS53 gene, GLB1 gene, MLC1 gene, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-00998-z; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/e12db3ed56af4fa8b96452f503099b00

STUDY OF EPIDEMIOLOGICAL AND CLINICAL PROFILE OF CHILDHOOD GUILLAIN-BARRE SYNDROME AT THE CHILDREN’S HOSPITAL, LAHORE

Authors: Faisal Zafar, Ahmad Omair Virk, Tipu Sultan, Zia Ur Rehman, Aadarsh Naz

Source: Pakistan Armed Forces Medical Journal, Vol 69, Iss 3, Pp 611-616 (2019)

Subject Terms: antecedent illness, guillain-barre syndrome, polyradiculoneuropathy, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.pafmj.org/index.php/PAFMJ/article/view/3040/2274; https://doaj.org/toc/0030-9648; https://doaj.org/toc/2411-8842

Access URL: https://doaj.org/article/6a7c53bb26494379b26afb45431c5925

CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS

Authors: Ahmad Omair Virk, Faisal Zafar, Tipu Sultan

Source: Pakistan Armed Forces Medical Journal, Vol 69, Iss 2, Pp 326-331 (2019)

Subject Terms: whole exome sequencing, neuroimaging, seizures, intellectual disability, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.pafmj.org/index.php/PAFMJ/article/view/2748/2153; https://doaj.org/toc/0030-9648; https://doaj.org/toc/2411-8842

Access URL: https://doaj.org/article/0502adf2e4404b74a36015f09a5c079e

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SURF Referral System for Hard Exudates.

Authors: Gohar Naqvi, Syed Ali¹, syed.phdee37@iiu.edu.pk, Faisal Zafar, Hafiz Muhammad¹, hmfzafar@gmail.com, Haq, Ihsan Ul¹, ihsanulhaq@iiu.edu.pk

Source: Asian Journal of Engineering, Sciences & Technology (AJEST); Mar2015, Vol. 5 Issue 1, p13-16, 4p

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Hard exudates referral system in eye fundus utilizing speeded up robust features

Authors: Syed Ali Gohar Naqvi, Hafiz Muhammad Faisal Zafar, Ihsanul Haq

Source: International Journal of Ophthalmology, Vol 10, Iss 7, Pp 1171-1174 (2017)

Subject Terms: 1174, referral system, speeded up robust features, eye, fundus, visual dictionaries, Ophthalmology, RE1-994

File Description: electronic resource

Relation: http://www.ijo.cn/en_publish/2017/7/20170724.pdf; https://doaj.org/toc/2222-3959; https://doaj.org/toc/2227-4898

Access URL: https://doaj.org/article/b1fac9b5889f495fbad3aba4e59ddf19