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Items: 1 to 20 of 47

1.
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology
Oleg A. Shchelochkov, Cristan A. Farmer, Colby Chlebowski, Dee Adedipe, Susan Ferry, Irini Manoli, Alexandra Pass, Samantha McCoy, Carol Van Ryzin, Jennifer Sloan, Audrey Thurm, Charles P. Venditti
Mol Psychiatry. 2024; 29(4): 974–981. Published online 2024 Jan 11. doi: 10.1038/s41380-023-02385-5
PMCID:
PMC11176071
AbstractArticlePDF–1.0M
2.
The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants
Huimin Li, Zhan Qi, Limin Xie, Chanjuan Hao, Wei Li
Mol Genet Genomic Med. 2024 Feb; 12(2): e2391. Published online 2024 Feb 5. doi: 10.1002/mgg3.2391
PMCID:
PMC10844841
AbstractArticlePDF–3.3M
3.
Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients
Tatiana A. Shnaider, Anna A. Khabarova, Ksenia N. Morozova, Anastasia M. Yunusova, Sophia A. Yakovleva, Anastasia S. Chvileva, Ekaterina R. Wolf, Elena V. Kiseleva, Elena V. Grigor’eva, Viktori Y. Voinova, Maria A. Lagarkova, Ekaterina A. Pomerantseva, Elizaveta V. Musatova, Alexander V. Smirnov, Anna V. Smirnova, Diana S. Stoklitskaya, Tatiana I. Arefieva, Daria A. Larina, Tatiana V. Nikitina, Inna E. Pristyazhnyuk
Cells. 2023 Dec; 12(23): 2702. Published online 2023 Nov 25. doi: 10.3390/cells12232702
PMCID:
PMC10705360
AbstractArticlePDF–66M
4.
Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability
Syeda Iqra Hussain, Nazif Muhammad, Salah Ud Din Shah, Fardous Fardous, Sher Alam Khan, Niamatullah Khan, Adil U Rehman, Mehwish Siddique, Shoukat Ali Wasan, Rooh Niaz, Hafiz Ullah, Niamat Khan, Noor Muhammad, Muhammad Usman Mirza, Naveed Wasif, Saadullah Khan
BMC Neurol. 2023; 23: 353. Published online 2023 Oct 4. doi: 10.1186/s12883-023-03397-y
PMCID:
PMC10548666
AbstractArticlePDF–2.3M
5.
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report
Karl De Geer, Katarzyna Mascianica, Karin Naess, Eliane Sardh, Anna Lindstrand, Erik Björck
BMC Ophthalmol. 2023; 23: 394. Published online 2023 Sep 26. doi: 10.1186/s12886-023-03136-4
PMCID:
PMC10523780
AbstractArticlePDF–1.3M
6.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr Strelko, Sonja Neuser, Marie Y Davis, Nobuaki Yoshikura, Naonobu Futamura, Tomoya Takeuchi, Shin Nabatame, Hiroyuki Ishiura, Shoji Tsuji, Huda Shujaa Aldeen, Elisa Cali, Clarissa Rocca, Henry Houlden, Stephanie Efthymiou, Birgit Assmann, Grace Yoon, Bianca A Trombetta, Pia Kivisäkk, Florian Eichler, Haitian Nan, Yoshihisa Takiyama, Alessandra Tessa, Filippo M Santorelli, Mustafa Sahin, Craig Blackstone, Edward Yang, Rebecca Schüle, Darius Ebrahimi-Fakhari
Brain. 2023 May; 146(5): 2003–2015. Published online 2022 Oct 31. doi: 10.1093/brain/awac391
PMCID:
PMC10411936
AbstractArticlePDF–926K
7.
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
Alice AbdelAleem, Naim Haddad, Ghada Al-Ettribi, Amy Crunk, Ahmed Elsotouhy
Neurogenetics. 2023; 24(2): 103–112. Published online 2023 Feb 13. doi: 10.1007/s10048-023-00710-2
PMCID:
PMC10063482
AbstractArticlePDF–3.5M
8.
Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome
Angham Abdulrhman Abdulkareem, Bader H. Shirah, Muhammad Imran Naseer
Genes (Basel) 2023 Feb; 14(2): 354. Published online 2023 Jan 30. doi: 10.3390/genes14020354
PMCID:
PMC9957204
AbstractArticlePDF–675K
9.
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders
Pitcha Chompoopong, Margherita Milone
Genes (Basel) 2023 Feb; 14(2): 372. Published online 2023 Jan 31. doi: 10.3390/genes14020372
PMCID:
PMC9956253
AbstractArticlePDF–10M
10.
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review
Francesca Magri, Sara Antognozzi, Michela Ripolone, Simona Zanotti, Laura Napoli, Patrizia Ciscato, Daniele Velardo, Giulietta Scuvera, Valeria Nicotra, Antonella Giacobbe, Donatella Milani, Francesco Fortunato, Manuela Garbellini, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
Skelet Muscle. 2022; 12: 23. Published online 2022 Sep 29. doi: 10.1186/s13395-022-00306-8
PMCID:
PMC9524117
AbstractArticlePDF–1.8M
11.
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants
Chih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin Lee, Yun-Ting Lo, Ya-Hui Chang, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin, Shuan-Pei Lin
Int J Mol Sci. 2022 Sep; 23(17): 9979. Published online 2022 Sep 1. doi: 10.3390/ijms23179979
PMCID:
PMC9456254
AbstractArticlePDF–2.7M
12.
Novel variants identified in CKAP2L in two siblings with Filippi syndrome
Ryan J. Patrick, Jill Weimer, Laura Davis-Keppen, Megan L. Landsverk
Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006130. doi: 10.1101/mcs.a006130
PMCID:
PMC8958909
AbstractArticlePDF–526K
13.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
Daniel L. Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, Parham Habibzadeh, Olga A. Levchenko, Pooneh Nikuei, Periklis Makrythanasis, Mureed Hussain, Sandra von Hardenberg, Sirous Zeinali, Mohammad-Sadegh Fallah, Janneke H. M. Schuurs-Hoeijmakers, Mohsin Shahzad, Fareeha Fatima, Neelam Fatima, Laura Donker Kaat, Hennie T. Bruggenwirth, Leah R. Fleming, John Condie, Rafal Ploski, Agnieszka Pollak, Jacek Pilch, Nina A. Demina, Alena L. Chukhrova, Vasilina S. Sergeeva, Hanka Venselaar, Amira T. Masri, Hanan Hamamy, Federico A. Santoni, Katrin Linda, Zubair M. Ahmed, Nael Nadif Kasri, Arjan P. M. de Brouwer, Anke K. Bergmann, Sven Hethey, Majid Yavarian, Muhammad Ansar, Saima Riazuddin, Sheikh Riazuddin, Mohammad Silawi, Gaia Ruggeri, Filomena Pirozzi, Ebrahim Eftekhar, Afsaneh Taghipour Sheshdeh, Shima Bahramjahan, Ghayda M. Mirzaa, Alexander V. Lavrov, Stylianos E. Antonarakis, Mohammad Ali Faghihi, Hans van Bokhoven
Genet Med. Author manuscript; available in PMC 2022 Jul 1.
Published in final edited form as: Genet Med. 2021 Jul; 23(7): 1246–1254. Published online 2021 Apr 6. doi: 10.1038/s41436-021-01133-w
PMCID:
PMC8725574
AbstractArticlePDF–1.3M
14.
An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions
Mika Hayakawa, Tomoyasu Matsubara, Yoko Mochizuki, Chisen Takeuchi, Motoyuki Minamitani, Masayuki Imai, Kenjiro Kosaki, Tomio Arai, Shigeo Murayama
BMC Neurol. 2022; 22: 2. Published online 2022 Jan 3. doi: 10.1186/s12883-021-02514-z
PMCID:
PMC8722294
AbstractArticlePDF–1.4M
15.
Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing
Adiratna Mat Ripen, Mei Yee Chiow, Prakash Rao Rama Rao, Saharuddin Bin Mohamad
Front Immunol. 2021; 12: 778133. Published online 2021 Nov 4. doi: 10.3389/fimmu.2021.778133
PMCID:
PMC8599285
AbstractArticlePDF–3.2M
16.
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly
Jennifer Morrison, Norah K. Altuwaijri, Kirsten Brønstad, Henriette Aksnes, Hessa S. Alsaif, Anthony Evans, Mais Hashem, Patricia G. Wheeler, Bryn D. Webb, Fowzan S. Alkuraya, Thomas Arnesen
Genet Med. 2021; 23(11): 2213–2218. Published online 2021 Jul 6. doi: 10.1038/s41436-021-01264-0
PMCID:
PMC8553619
AbstractArticlePDF–1.2M
17.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Maria Iqbal, Reza Maroofian, Büşranur Çavdarlı, Florence Riccardi, Michael Field, Siddharth Banka, Dalal K. Bubshait, Yun Li, Jozef Hertecant, Shahid Mahmood Baig, David Dyment, Stephanie Efthymiou, Uzma Abdullah, Ehtisham Ul Haq Makhdoom, Zafar Ali, Tobias Scherf de Almeida, Florence Molinari, Cécile Mignon-Ravix, Brigitte Chabrol, Jayne Antony, Lesley Ades, Alistair T. Pagnamenta, Adam Jackson, Sofia Douzgou, Genomics England Research Consortium, Christian Beetz, Vasiliki Karageorgou, Barbara Vona, Aboulfazl Rad, Jamshaid Mahmood Baig, Tipu Sultan, Javeria Raza Alvi, Shazia Maqbool, Fatima Rahman, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Yasra Sarwar, Sheraz Khan, Muhammad Jameel, Angelika A. Noegel, Birgit Budde, Janine Altmüller, Susanne Motameny, Wolfgang Höhne, Henry Houlden, Peter Nürnberg, Bernd Wollnik, Laurent Villard, Fowzan Sami Alkuraya, Matthew Osmond, Muhammad Sajid Hussain, Gökhan Yigit
Genet Med. 2021; 23(11): 2138–2149. Published online 2021 Jul 9. doi: 10.1038/s41436-021-01260-4
PMCID:
PMC8553613
AbstractArticlePDF–2.1M
18.
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families
Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, Muhammad Umair, Asmat Ullah, Shaheen Shahzad, Muhammad Javed, Emma L. Baple, Andrew H. Crosby, Wasim Ahmad, Asma Gul
BMC Med Genet. 2019; 20: 199. Published online 2019 Dec 18. doi: 10.1186/s12881-019-0907-7
PMCID:
PMC6921424
AbstractArticlePDF–917K
19.
Phenotypic Heterogeneity in Woodhouse-Sakati Syndrome: Two New Families with a Mutation in the C2orf37 Gene
Tawfeg Ben-Omran, Rehab Ali, Mariam Almureikhi, Seham Alameer, Muna Al-Saffar, Christopher A. Walsh, Jillian M. Felie, Ahmad Teebi
Am J Med Genet A. Author manuscript; available in PMC 2019 Dec 11.
Published in final edited form as: Am J Med Genet A. 2011 Nov; 155A(11): 2647–2653. Published online 2011 Sep 30. doi: 10.1002/ajmg.a.34219
PMCID:
PMC6905109
AbstractArticlePDF–705K
20.
Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report
Li’na Fu, Yan Liu, Yu Chen, Yi Yuan, Wei Wei
BMC Pediatr. 2019; 19: 68. Published online 2019 Feb 27. doi: 10.1186/s12887-019-1440-8
PMCID:
PMC6394075
AbstractArticlePDF–1000K

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