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Items: 1 to 20 of 500

1.
The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy
Engy A. Ashaat, Hoda A. Ahmed, Nesma M. Elaraby, Alaaeldin Fayez, Ammal M. Metwally, Mona K. Mekkawy, Dalia Farouk Hussen, Neveen A. Ashaat, Rasha M. Elhossini, Heba Ahmed ElAwady, Randa H. A. Abdelgawad, Mona El Gammal, Mohamed Ahmed Al Kersh, Dina Amin Saleh
Mol Neurobiol. 2024; 61(8): 4949–4961. Published online 2023 Dec 28. doi: 10.1007/s12035-023-03866-y
PMCID:
PMC11249754
AbstractArticlePDF–1.5M
2.
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism
Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovese, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi
Int J Mol Sci. 2024 Jul; 25(13): 6912. Published online 2024 Jun 24. doi: 10.3390/ijms25136912
PMCID:
PMC11241409
AbstractArticlePDF–3.8M
3.
Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2
Saki Nakashima, Masashi Hamada, Tomohiko Kimura, Shuichi Tanifuji, Akiko Takahashi, Daiki Yashita, Yu Kakimoto, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda
Intern Med. 2024 Jun 15; 63(12): 1807–1812. Published online 2023 Nov 6. doi: 10.2169/internalmedicine.2563-23
PMCID:
PMC11239262
AbstractArticlePDF–1.5M
4.
Tuberous Sclerosis Complex and the kidneys: what nephrologists need to know
Aline Grosskopf Monich, John J. Bissler, Fellype Carvalho Barreto
J Bras Nefrol. 2024 Jul-Sep; 46(3): e20240013. Published online 2024 Jul 5. doi: 10.1590/2175-8239-JBN-2024-0013en
PMCID:
PMC11239183
AbstractArticlePDF–1.8M
5.
Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada
Deirdre Weymann, John Buckell, Patrick Fahr, Rosalie Loewen, Morgan Ehman, Samantha Pollard, Jan M. Friedman, Sylvia Stockler-Ipsiroglu, Alison M. Elliott, Sarah Wordsworth, James Buchanan, Dean A. Regier
JAMA Netw Open. 2024 Jul; 7(7): e2420842. Published online 2024 Jul 10. doi: 10.1001/jamanetworkopen.2024.20842
PMCID:
PMC11238031
AbstractArticle
6.
Neurological symptoms in adults with Gaucher disease: a systematic review
Gabriele Imbalzano, Claudia Ledda, Alberto Romagnolo, Anna Covolo, Leonardo Lopiano, Carlo Alberto Artusi
J Neurol. 2024; 271(7): 3897–3907. Published online 2024 May 21. doi: 10.1007/s00415-024-12439-5
PMCID:
PMC11233309
AbstractArticlePDF–1.3M
7.
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes
Ming-Feng He, Li-Hong Liu, Sheng Luo, Juan Wang, Jia-Jun Guo, Peng-Yu Wang, Qiong-Xiang Zhai, Su-Li He, Dong-Fang Zou, Xiao-Rong Liu, Bing-Mei Li, Hai-Yan Ma, Jing-Da Qiao, Peng Zhou, Na He, Yong-Hong Yi, Wei-Ping Liao
J Med Genet. 2024 Jul; 61(7): 652–660. Published online 2024 Mar 20. doi: 10.1136/jmg-2023-109725
PMCID:
PMC11228202
AbstractArticlePDF–4.4M
8.
A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases
Mohammad Reza Seyedtaghia, Reza Jafarzadeh‐Esfehani, Seyedmojtaba Hosseini, Sepehr Kobravi, Mahdis Hakkaki, Yalda Nilipour
Mol Genet Genomic Med. 2024 Jul; 12(7): e2489. Published online 2024 Jul 5. doi: 10.1002/mgg3.2489
PMCID:
PMC11225075
AbstractArticlePDF–2.1M
9.
A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17
Takeo Mukai, Shota Kato, Hiroyuki Tanaka, Yukiko Kuroda, Hiroki Kitaoka, Atsushi Ito, Yoshihiko Shitara, Kohei Kashima, Hirokazu Takami, Naoto Takahashi, Motohiro Kato
Mol Genet Genomic Med. 2024 Jul; 12(7): e2452. Published online 2024 Jul 5. doi: 10.1002/mgg3.2452
PMCID:
PMC11224963
AbstractArticlePDF–3.3M
10.
Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay
Fei Yang, Minghui Wang
BMC Med Genomics. 2024; 17: 175. Published online 2024 Jul 2. doi: 10.1186/s12920-024-01952-1
PMCID:
PMC11221095
AbstractArticlePDF–1.7M
11.
Life-Threatening Diffuse Alveolar Hemorrhage and Graft Failure in Atypical Hemolytic Uremic Syndrome with C3 Gene Mutation following Kidney Transplant
Ji Yeon Song, Seung Hwan Oh, Younga Kim
Nephron Clin Pract. 2024 Jul; 148(7): 474–479. Published online 2023 Nov 24. doi: 10.1159/000535192
PMCID:
PMC11216361
AbstractArticle
12.
Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6
Tendai Mhlanga-Mutangadura, Garrett Bullock, Sofia Cerda-Gonzalez, Martin L. Katz
Genes (Basel) 2024 Jun; 15(6): 661. Published online 2024 May 23. doi: 10.3390/genes15060661
PMCID:
PMC11203140
AbstractArticlePDF–25M
13.
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern
Alba Gabaldon-Albero, Lourdes Cordon, Amparo Sempere, Laia Pedrola, Carla Martin-Grau, Silvestre Oltra, Sandra Monfort, Alfonso Caro-Llopis, Marta Dominguez-Martinez, Sara Hernandez-Muela, Monica Rosello, Carmen Orellana, Francisco Martinez
Genes (Basel) 2024 Jun; 15(6): 802. Published online 2024 Jun 18. doi: 10.3390/genes15060802
PMCID:
PMC11203057
AbstractArticlePDF–1.1M
14.
Molecular Genetics of Acquired Temporal Lobe Epilepsy
Anne-Marie Neumann, Stefan Britsch
Biomolecules. 2024 Jun; 14(6): 669. Published online 2024 Jun 7. doi: 10.3390/biom14060669
PMCID:
PMC11202058
AbstractArticlePDF–336K
15.
Metagenomic next-generation sequencing could play a pivotal role in validating the diagnosis of invasive mold disease of the central nervous system
Erhu Wei, Jiechao Niu, Mengjiao Zhang, Yu Zhang, Kunli Yan, Xiao Fang, Wei Ma, Lei Xie, Peisheng Jia, Huaili Wang
Front Cell Infect Microbiol. 2024; 14: 1393242. Published online 2024 Jun 7. doi: 10.3389/fcimb.2024.1393242
PMCID:
PMC11190073
AbstractArticlePDF–1.7M
16.
Epilepsy in Duchenne and Becker muscular dystrophies
Jesus Alfonso Armijo Gómez, Miguel A. Fernandez‐Garcia, Ana Camacho, Marlin Liz, Carlos Ortez, Miguel Lafuente‐Hidalgo, Laura Toledo Bravo‐de Laguna, Berta Estévez‐Arias, Laura Carrera‐García, Jessica Expósito‐Escudero, Jana Domínguez‐Carral, Andres Nascimento, Daniel Natera‐de Benito
Ann Clin Transl Neurol. 2024 Jun; 11(6): 1456–1464. Published online 2024 May 1. doi: 10.1002/acn3.52058
PMCID:
PMC11187830
AbstractArticlePDF–1.2M
17.
SV2B defines a subpopulation of synaptic vesicles
Isabelle Paulussen, Hannes Beckert, Timothy F Musial, Lena J Gschossmann, Julia Wolf, Mathieu Schmitt, Jérôme Clasadonte, Georges Mairet-Coello, Christian Wolff, Susanne Schoch, Dirk Dietrich
J Mol Cell Biol. 2023 Sep; 15(9): mjad054. Published online 2023 Sep 8. doi: 10.1093/jmcb/mjad054
PMCID:
PMC11184983
AbstractArticlePDF–2.0M
18.
Heterozygous Variants in SPTBN1 Cause Intellectual Disability and Autism
Jill A. Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael J. Parker, Mary K. Koenig, Arie van Haeringen, Claudia Ruivenkamp, Joana Rosmaninho-Salgado, Pedro M. Almeida, Joaquim Sá, Jorge Pinto Basto, Emily Palen, Kathryn F. Oetjens, Lindsay C. Burrage, Fan Xia, Pengfei Liu, Christine M. Eng, Undiagnosed Diseases Network, Yaping Yang, Jennifer E. Posey, Brendan H. Lee
Am J Med Genet A. Author manuscript; available in PMC 2024 Jun 17.
Published in final edited form as: Am J Med Genet A. 2021 Jul; 185(7): 2037–2045. Published online 2021 Apr 13. doi: 10.1002/ajmg.a.62201
PMCID:
PMC11182376
AbstractArticlePDF–779K
19.
Allogeneic hematopoietic stem cell transplant for familial hemophagocytic lymphohistiocytosis: a case report and literature review
Liu Bingjie, Zhang Linlin, Ma Futian, Xuan Fan, Du Huan, Xiaoli Wu, Lixia Zhou, Wang Fuxu, Zhang Xuejun, Wang Ying
Front Immunol. 2024; 15: 1391074. Published online 2024 Jun 3. doi: 10.3389/fimmu.2024.1391074
PMCID:
PMC11180752
AbstractArticlePDF–2.7M
20.
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants
Dina Buitrago Silva, Marena Trinidad, Alicia Ljungdahl, Jezrael L. Revalde, Geoffrey Y. Berguig, William Wallace, Cory S. Patrick, Lorenzo Bomba, Michelle Arkin, Shan Dong, Karol Estrada, Keino Hutchinson, Jonathan H. LeBowitz, Avner Schlessinger, Katrine M. Johannesen, Rikke S. Møller, Kathleen M. Giacomini, Steven Froelich, Stephan J. Sanders, Arthur Wuster
Am J Hum Genet. 2024 Jun 6; 111(6): 1222–1238. Published online 2024 May 22. doi: 10.1016/j.ajhg.2024.04.021
PMCID:
PMC11179425
AbstractArticlePDF–3.3M

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