PMC Articles for MedGen (Select 1637443) - PMC

Select item 108064501.

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Vincenzo Salpietro, Reza Maroofian, Maha S. Zaki, Jamie Wangen, Andrea Ciolfi, Sabina Barresi, Stephanie Efthymiou, Angelique Lamaze, Gabriel N. Aughey, Fuad Al Mutairi, Aboulfazl Rad, Clarissa Rocca, Elisa Calì, Andrea Accogli, Federico Zara, Pasquale Striano, Majid Mojarrad, Huma Tariq, Edoardo Giacopuzzi, Jenny C. Taylor, Gabriela Oprea, Volha Skrahina, Khalil Ur Rehman, Marwa Abd Elmaksoud, Mahmoud Bassiony, Huda G. El Said, Mohamed S. Abdel-Hamid, Maha Al Shalan, Gohun Seo, Sohyun Kim, Hane Lee, Rin Khang, Mahmoud Y. Issa, Hasnaa M. Elbendary, Karima Rafat, Nikolaos M. Marinakis, Joanne Traeger-Synodinos, Athina Ververi, Mara Sourmpi, Atieh Eslahi, Farhad Khadivi Zand, Mehran Beiraghi Toosi, Meisam Babaei, Adam Jackson, SYNAPS Study Group, Aida Bertoli-Avella, Alistair T. Pagnamenta, Marcello Niceta, Roberta Battini, Antonio Corsello, Chiara Leoni, Francesco Chiarelli, Bruno Dallapiccola, Eissa Ali Faqeih, Krishnaraya K. Tallur, Majid Alfadhel, Eman Alobeid, Sateesh Maddirevula, Kshitij Mankad, Siddharth Banka, Ehsan Ghayoor-Karimiani, Marco Tartaglia, Wendy K. Chung, Rachel Green, Fowzan S. Alkuraya, James E.C. Jepson, Henry Houlden

Am J Hum Genet. 2024 Jan 4; 111(1): 200–210. Published online 2023 Dec 20. doi: 10.1016/j.ajhg.2023.11.012

PMCID:: PMC10806450

Abstract Article PDF–3.8M

Select item 106900112.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino

Brain. 2023 Dec; 146(12): 5031–5043. Published online 2023 Jul 30. doi: 10.1093/brain/awad257

PMCID:: PMC10690011

Abstract Article PDF–1.1M

Select item 99908233.

Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy

PURVI MAJETHIA, MICHELLE C DO ROSARIO, PARNEET KAUR, KARANVIR, RAAGUL SHANKAR, SUVASINI SHARMA, SHAHYAN SIDDIQUI, ANJU SHUKLA

Ann Hum Genet. Author manuscript; available in PMC 2023 Mar 7.

Published in final edited form as: Ann Hum Genet. 2022 Mar; 86(2): 94–101. Published online 2021 Dec 8. doi: 10.1111/ahg.12452

PMCID:: PMC9990823

Abstract Article PDF–1.0M

Select item 98200694.

Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency

Stephen J. Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, François Lecoquierre, Soumeya Bekri, Michael S. Kilberg

Int J Mol Sci. 2023 Jan; 24(1): 559. Published online 2022 Dec 29. doi: 10.3390/ijms24010559

PMCID:: PMC9820069

Abstract Article PDF–1.8M

Select item 95411015.

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

Luciana Musante, Flavio Faletra, Kolja Meier, Hoda Tomoum, Paria Najarzadeh Torbati, Edward Blair, Sally North, Jutta Gärtner, Susann Diegmann, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Ehsan Ghayoor Karimiani, David Murphy, Flora Maria Murru, Caterina Zanus, Andrea Magnolato, Martina La Bianca, Agnese Feresin, Giorgia Girotto, Paolo Gasparini, Paola Costa, Marco Carrozzi

Am J Med Genet A. 2022 Sep; 188(9): 2652–2665. Published online 2022 Jun 7. doi: 10.1002/ajmg.a.62852

Correction in:: Am J Med Genet A. 2023 Mar; 191(3): 910.

PMCID:: PMC9541101

Abstract Article PDF–2.6M

Select item 94784016.

Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency

Stephen J. Staklinski, Mario C. Chang, Fang Yu, Kathleen Collins Ruff, David N. Franz, Zhijian Qian, Linda B. Bloom, Matthew E. Merritt, Robert McKenna, Michael S. Kilberg

J Biol Chem. 2022 Sep; 298(9): 102385. Published online 2022 Aug 17. doi: 10.1016/j.jbc.2022.102385

PMCID:: PMC9478401

Abstract Article PDF–4.0M

Select item 94337337.

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder

Scott Barish, Mumine Senturk, Kelly Schoch, Amanda L Minogue, Diego Lopergolo, Chiara Fallerini, Jake Harland, Jacob H Seemann, Nicholas Stong, Peter G Kranz, Sujay Kansagra, Mohamad A Mikati, Joan Jasien, Mays El-Dairi, Paolo Galluzzi, Undiagnosed Diseases Network , Francesca Ariani, Alessandra Renieri, Francesca Mari, Michael F Wangler, Swathi Arur, Yong-Hui Jiang, Shinya Yamamoto, Vandana Shashi, Hugo J Bellen

Hum Mol Genet. 2022 Sep 1; 31(17): 2934–2950. Published online 2022 Apr 11. doi: 10.1093/hmg/ddac085

PMCID:: PMC9433733

Abstract Article PDF–1.7M

Select item 75495538.

Survival of a male patient harboring CASK Arg27Ter mutation to adolescence

Konark Mukherjee, Paras A. Patel, Deepa S. Rajan, Leslie E. W. LaConte, Sarika Srivastava

Mol Genet Genomic Med. 2020 Oct; 8(10): e1426. Published online 2020 Jul 21. doi: 10.1002/mgg3.1426

PMCID:: PMC7549553

Abstract Article PDF–737K

Select item 69905049.

Wwox deficiency leads to neurodevelopmental and degenerative neuropathies and glycogen synthase kinase 3β-mediated epileptic seizure activity in mice

Ya-Yun Cheng, Ying-Tsen Chou, Feng-Jie Lai, Ming-Shiou Jan, Tsung-Hao Chang, I-Ming Jou, Pei-Shiuan Chen, Jui-Yen Lo, Shiang-Suo Huang, Nan-Shan Chang, Yung-Tsai Liou, Po-Chih Hsu, Hui-Ching Cheng, Yee-Shin Lin, Li-Jin Hsu

Acta Neuropathol Commun. 2020; 8: 6. Published online 2020 Jan 30. doi: 10.1186/s40478-020-0883-3

PMCID:: PMC6990504

Abstract Article PDF–3.2M

Select item 693575310.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehlivan, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary J H Willis, Zeynep H Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V Hunter, Shalini N Jhangiani, Jawid M Fatih, Jill A Rosenfeld, Jennifer E Posey, Richard A Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R Lupski, Michael Sacher, Nava Segev, Hakon Hakonarson, John Christodoulou

Brain. 2020 Jan; 143(1): 112–130. Published online 2019 Dec 3. doi: 10.1093/brain/awz374

Correction in:: Brain. 2020 Mar; 143(3): e24.

PMCID:: PMC6935753

Abstract Article PDF–1.9M

Select item 623572511.

Pathobiology of Christianson Syndrome: Linking Disrupted Endosomal-Lysosomal Function with Intellectual Disability and Sensory Impairments

Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis

Neurobiol Learn Mem. Author manuscript; available in PMC 2020 Nov 1.

Published in final edited form as: Neurobiol Learn Mem. 2019 Nov; 165: 106867. Published online 2018 May 14. doi: 10.1016/j.nlm.2018.05.004

PMCID:: PMC6235725

Abstract Article PDF–2.7M

Select item 583259912.

Characterization of a Novel Variant in Siblings with Asparagine Synthetase Deficiency

Stephanie J. Sacharow, Elizabeth E. Dudenhausen, Carrie L. Lomelino, Lance Rodan, Christelle Moufawad El Achkar, Heather E. Olson, Casie A Genetti, Pankaj B. Agrawal, Robert McKenna, Michael S. Kilberg

Mol Genet Metab. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Mol Genet Metab. 2018 Mar; 123(3): 317–325. Published online 2017 Dec 20. doi: 10.1016/j.ymgme.2017.12.433

PMCID:: PMC5832599

Abstract Article PDF–944K

Select item 562496013.

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

Chong Kun Cheon, So-Hee Lim, Yoo-Mi Kim, Doyoun Kim, Na-Yoon Lee, Tae-Sung Yoon, Nam-Soon Kim, Eunjoon Kim, Jae-Ran Lee

Sci Rep. 2017; 7: 12527. Published online 2017 Oct 2. doi: 10.1038/s41598-017-12999-9

PMCID:: PMC5624960

Abstract Article PDF–6.5M

Select item 553288214.

BRAT1 Mutations Present with a Spectrum of Clinical Severity

Siddharth Srivastava, Heather E. Olson, Julie S. Cohen, Cynthia S. Gubbels, Sharyn Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W. Yu, David T. Miller, Janet S. Soul, Andrea Poretti, SakkuBai Naidu

Am J Med Genet A. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Am J Med Genet A. 2016 Sep; 170(9): 2265–2273. Published online 2016 Jun 9. doi: 10.1002/ajmg.a.37783

PMCID:: PMC5532882

Abstract Article PDF–1.6M

Select item 547736715.

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB

Alan O'Brien, Christian R Marshall, Susan Blaser, Peter N Ray, Grace Yoon

Eur J Hum Genet. 2017 Jun; 25(6): 775–778. Published online 2017 Apr 5. doi: 10.1038/ejhg.2017.39

PMCID:: PMC5477367

Abstract Article PDF–2.1M

Select item 529488616.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen, Oyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara M. Skraban, Matthew A. Deardorff, Jeremy N. Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martinez-Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi

Am J Hum Genet. 2017 Feb 2; 100(2): 343–351. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2016.12.013

PMCID:: PMC5294886

Abstract Article PDF–1.8M

Select item 480622117.

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

Michael S. Nahorski, Masato Asai, Emma Wakeling, Alasdair Parker, Naoya Asai, Natalie Canham, Susan E. Holder, Ya-Chun Chen, Joshua Dyer, Angela F. Brady, Masahide Takahashi, C. Geoffrey Woods

Brain. 2016 Apr; 139(4): 1036–1044. Published online 2016 Feb 25. doi: 10.1093/brain/aww014

PMCID:: PMC4806221

Abstract Article PDF–900K

Select item 430479618.

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome

Matthew F. Pescosolido, David M. Stein, Michael Schmidt, Christelle Moufawad El Achkar, Mark Sabbagh, Jeffrey M. Rogg, Umadevi Tantravahi, Rebecca L. McLean, Judy S. Liu, Annapurna Poduri, Eric M. Morrow

Ann Neurol. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Ann Neurol. 2014 Oct; 76(4): 581–593. Published online 2014 Sep 19. doi: 10.1002/ana.24225

PMCID:: PMC4304796

Abstract Article PDF–1.2M

Select item 577169119.

Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome

Meiyu Xu, Qing Ouyang, Jingyi Gong, Matthew F. Pescosolido, Brandon S. Pruett, Sasmita Mishra, Michael Schmidt, Richard N. Jones, Ece D. Gamsiz Uzun, Sofia B. Lizarraga, Eric M. Morrow

eNeuro. 2017 Nov-Dec; 4(6): ENEURO.0388-17.2017. Prepublished online 2017 Dec 26. Published online 2018 Jan 17. doi: 10.1523/ENEURO.0388-17.2017

PMCID:: PMC5771691

Abstract Article PDF–13M

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