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Items: 1 to 20 of 170

1.
Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant—Our Experience and Systematic Review of the Literature
Adina Stoian, Zoltan Bajko, Rodica Bălașa, Sebastian Andone, Mircea Stoian, Ioana Ormenișan, Carmen Muntean, Claudia Bănescu
Biomolecules. 2024 Mar; 14(3): 270. Published online 2024 Feb 23. doi: 10.3390/biom14030270
PMCID:
PMC10968252
AbstractArticlePDF–3.0M
2.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, David Sims, Meriel McEntagart, Frances Elmslie, Debbie Shears, Helen Stewart, George K. Tofaris, Tabib Dabir, Patrick J. Morrison, Diana Johnson, Marios Hadjivassiliou, Sian Ellard, Charles Shaw‐Smith, Anna Znaczko, Abhijit Dixit, Mohnish Suri, Ajoy Sarkar, Rachel E. Harrison, Gabriela Jones, Henry Houlden, Giorgia Ceravolo, Joanna Jarvis, Jonathan Williams, Morag E. Shanks, Penny Clouston, Julia Rankin, Lubov Blumkin, Tally Lerman‐Sagie, Penina Ponger, Salmo Raskin, Katariina Granath, Johanna Uusimaa, Hector Conti, Emma McCann, Shelagh Joss, Alexander J.M. Blakes, Kay Metcalfe, Helen Kingston, Marta Bertoli, Rachel Kneen, Sally Ann Lynch, Inmaculada Martínez Albaladejo, Austen Peter Moore, Wendy D. Jones, Genomics England Research Consortium, Esther B.E. Becker, Andrea H. Németh
Mov Disord. 2024 Jan; 39(1): 141–151. Published online 2023 Nov 14. doi: 10.1002/mds.29651
PMCID:
PMC10952845
AbstractArticlePDF–3.0M
3.
中国SPG11患者的临床与分子遗传学研究
杜 鹃
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Dec 28; 47(12): 1729–1732. Chinese. doi: 10.11817/j.issn.1672-7347.2022.190651
PMCID:
PMC10930275
AbstractArticlePDF–469K
4.
Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5
Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Sara Seneca, Luc Regal, Paola Podini, Maurizio D’Antonio, Camilo Toro, Angelo Quattrini, Emmanuel Scalais, Francesca Maltecca
Brain. 2024 Mar; 147(3): 1043–1056. Published online 2023 Oct 7. doi: 10.1093/brain/awad340
PMCID:
PMC10907083
AbstractArticlePDF–1.1M
5.
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature
Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti
Epilepsia Open. 2024 Feb; 9(1): 106–121. Published online 2023 Nov 27. doi: 10.1002/epi4.12837
PMCID:
PMC10839293
AbstractArticlePDF–4.6M
6.
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
AbstractArticlePDF–1.1M
7.
Enfermedad neurológica asociada al gen KIF1A: correlación genotipo/fenotipo
Ana Ortiz-Ortigosa, Rocío Calvo-Medina, César Ruiz-García, Rafael Vera-Medialdea, José M. Ramos-Fernández
Rev Neurol. 2023; 77(6): 141–145. Spanish. Published online 2023 Sep 16. doi: 10.33588/rn.7706.2023185
PMCID:
PMC10662185
AbstractArticlePDF–766K
8.
A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
Yuka Hama, Hidetoshi Date, Akiko Fujimoto, Ayano Matsui, Hiroyuki Ishiura, Jun Mitsui, Toshiyuki Yamamoto, Shoji Tsuji, Hidehiro Mizusawa, Yuji Takahashi
Cerebellum. 2023; 22(6): 1308–1311. Published online 2022 Oct 13. doi: 10.1007/s12311-022-01489-y
Correction in:
Cerebellum. 2023; 22(6): 1312.
PMCID:
PMC10657280
AbstractArticlePDF–678K
9.
Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A
Katsuya Nakamura, Tsuneaki Yoshinaga, Minori Kodaira, Emiko Kise, Tomoki Kosho, Yoshiki Sekijima
Intern Med. 2023 Oct 15; 62(20): 3047–3051. Published online 2023 Mar 8. doi: 10.2169/internalmedicine.1184-22
PMCID:
PMC10641196
AbstractArticlePDF–1.6M
10.
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment
Xiaolin Lin, Wei Wang, Mingyi Yang, Nadirah Damseh, Mirta Mittelstedt Leal de Sousa, Fadi Jacob, Anna Lång, Elise Kristiansen, Marco Pannone, Miroslava Kissova, Runar Almaas, Anna Kuśnierczyk, Richard Siller, Maher Shahrour, Motee Al-Ashhab, Bassam Abu-Libdeh, Wannan Tang, Geir Slupphaug, Orly Elpeleg, Stig Ove Bøe, Lars Eide, Gareth J. Sullivan, Johanne Egge Rinholm, Hongjun Song, Guo-li Ming, Barbara van Loon, Simon Edvardson, Jing Ye, Magnar Bjørås
Genome Biol. 2023; 24: 216. Published online 2023 Sep 29. doi: 10.1186/s13059-023-03037-1
PMCID:
PMC10540402
AbstractArticlePDF–3.4M
11.
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype
Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Int J Mol Sci. 2023 Sep; 24(18): 13699. Published online 2023 Sep 5. doi: 10.3390/ijms241813699
PMCID:
PMC10530954
AbstractArticlePDF–3.7M
12.
New Views of the DNA Repair Protein Ataxia–Telangiectasia Mutated in Central Neurons: Contribution in Synaptic Dysfunctions of Neurodevelopmental and Neurodegenerative Diseases
Sabrina Briguglio, Clara Cambria, Elena Albizzati, Elena Marcello, Giovanni Provenzano, Angelisa Frasca, Flavia Antonucci
Cells. 2023 Sep; 12(17): 2181. Published online 2023 Aug 30. doi: 10.3390/cells12172181
PMCID:
PMC10486624
AbstractArticlePDF–1.5M
13.
Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism
Mateusz Dawidziuk, Aleksandra Podwysocka, Marta Jurek, Ewa Obersztyn, Monika Bekiesinska-Figatowska, Alicja Goszczanska-Ciuchta, Ewelina Bukowska-Olech, Agnieszka Magdalena Rygiel, Dorothy Lys Guilbride, Wojciech Wiszniewski, Pawel Gawlinski
J Appl Genet. 2023; 64(3): 507–514. Published online 2023 Aug 21. doi: 10.1007/s13353-023-00773-9
PMCID:
PMC10457220
AbstractArticlePDF–763K
14.
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person, Aida Telegrafi, Chalongchai Phitsanuwong, Kaylene Fiala, Isabelle Thiffault, Florencia Del Viso, Dihong Zhou, Emily A Fleming, Tomi Pastinen, Ali Fatemi, Sruthi Thomas, Samuel I Pascual, Rosa J Torres, Carmen Prior, Clara Gómez-González, Saskia Biskup, James R Lupski, Dragan Maric, Miguel Holmgren, Debra Regier, Sho T Yano
Brain. 2023 Aug; 146(8): 3162–3171. Published online 2023 Apr 12. doi: 10.1093/brain/awad124
PMCID:
PMC10393399
AbstractArticlePDF–925K
15.
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect
Paolo Fontana, Alberto Budillon, Domenico Simeone, Francesca Del Vecchio Blanco, Martina Caiazza, Alessandra D’Amico, Fortunato Lonardo, Vincenzo Nigro, Giuseppe Limongelli, Gioacchino Scarano
Genes (Basel) 2023 Jul; 14(7): 1444. Published online 2023 Jul 14. doi: 10.3390/genes14071444
PMCID:
PMC10379968
AbstractArticlePDF–2.5M
16.
Improving Rice Leaf Shape Using CRISPR/Cas9-Mediated Genome Editing of SRL1 and Characterizing Its Regulatory Network Involved in Leaf Rolling through Transcriptome Analysis
Yue Han, Jinlian Yang, Hu Wu, Fang Liu, Baoxiang Qin, Rongbai Li
Int J Mol Sci. 2023 Jul; 24(13): 11087. Published online 2023 Jul 4. doi: 10.3390/ijms241311087
PMCID:
PMC10342453
AbstractArticlePDF–2.7M
17.
Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II
Maddalena Petraroli, Antonio Percesepe, Maria Piane, Francesca Ormitti, Eleonora Castellone, Margherita Gnocchi, Giulia Messina, Luca Bernardi, Viviana Dora Patianna, Susanna Maria Roberta Esposito, Maria Elisabeth Street
Front Endocrinol (Lausanne) 2023; 14: 1018441. Published online 2023 May 10. doi: 10.3389/fendo.2023.1018441
PMCID:
PMC10206130
AbstractArticlePDF–3.5M
18.
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy
Nazia Ibrahim, Shagufta Naz, Francesca Mattioli, Nicolas Guex, Saima Sharif, Afia Iqbal, Muhammad Ansar, Alexandre Reymond
Genes (Basel) 2023 Mar; 14(3): 707. Published online 2023 Mar 13. doi: 10.3390/genes14030707
PMCID:
PMC10048441
AbstractArticlePDF–2.6M
19.
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
AbstractArticlePDF–1.0M
20.
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8
Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, Marina Carapelle, Federica Francesca L’Erario, Romina Venditti, Sabrina Maietta, Domenica Immacolata Battaglia, Ilaria Contaldo, Chiara Veredice, Marcella Zollino
Genes (Basel) 2023 Feb; 14(2): 245. Published online 2023 Jan 17. doi: 10.3390/genes14020245
PMCID:
PMC9956376
AbstractArticlePDF–10M

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