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Items: 1 to 20 of 82

1.
Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study
Laura Lentini, Helia Toutounchi, Alexandra Chapleau, Adam Le, Simon Fournier, Fatemeh Emari, Robert Flamini, Andrea Rossi, Angela Gentile, Enrico Bertini, Francesco Nicita, Daniela Pohl, Sunita Venkateswaran, Stephanie Keller, Elsa Rossignol, Deborah Renaud, Danilo De Assis Pereira, Xiaoru Chen, Adeline Vanderver, Geneviève Bernard
J Child Neurol. 2025 Jan; 40(1): 26–38. Published online 2024 Oct 21. doi: 10.1177/08830738241283171
PMCID:
PMC11590388
AbstractArticlePDF–664K
2.
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D’Amico, Enrico Silvio Bertini, Francesco Nicita
Genes (Basel) 2024 Apr; 15(4): 508. Published online 2024 Apr 18. doi: 10.3390/genes15040508
PMCID:
PMC11050085
AbstractArticlePDF–734K
3.
Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A
Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A. Kashgari, Aaisha Al Balushi, Fahad A. Al Dihan, Mohannad A. Alghamdi, Abothnain Manal, Ana C. González‐Álvarez, Stefan T. Arold, Wafaa Eyaid
Mol Genet Genomic Med. 2024 Mar; 12(3): e2274. Published online 2024 Feb 13. doi: 10.1002/mgg3.2274
PMCID:
PMC10958179
AbstractArticlePDF–1.2M
4.
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep
Laura Licchetta, Lucia Di Giorgi, Margherita Santucci, Lisa Taruffi, Carlotta Stipa, Raffaella Minardi, Valerio Carelli, Francesca Bisulli
Mol Genet Genomic Med. 2024 Jan; 12(1): e2311. Published online 2023 Dec 13. doi: 10.1002/mgg3.2311
PMCID:
PMC10767575
AbstractArticlePDF–1.9M
5.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Bernard
J Med Genet. 2023 Oct; 60(10): 1026–1034. Published online 2023 May 16. doi: 10.1136/jmg-2023-109223
PMCID:
PMC10579516
AbstractArticlePDF–669K
6.
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder
Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha S Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden
J Med Genet. 2023 Aug; 60(8): 791–796. Published online 2022 Dec 29. doi: 10.1136/jmg-2022-108566
PMCID:
PMC10423509
AbstractArticlePDF–739K
7.
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy
Michelle C do Rosario, Guillermo Rodriguez Bey, Bruce Nmezi, Fang Liu, Talia Oranburg, Ana S A Cohen, Keith A Coffman, Maya R Brown, Kirill Kiselyov, Quinten Waisfisz, Myrthe T Flohil, Shahyan Siddiqui, Jill A Rosenfeld, Alejandro Iglesias, Katta Mohan Girisha, Nicole I Wolf, Quasar Saleem Padiath, Anju Shukla
Brain. 2022 Dec; 145(12): 4202–4209. Published online 2022 Aug 12. doi: 10.1093/brain/awac295
PMCID:
PMC10200305
AbstractArticlePDF–1006K
8.
A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome
Nazlı Durmaz Çelik, Ebru Erzurumluoğlu, Serkan Özben, Uğur Toprak, Göknur Yorulmaz, Sevilhan Artan, Serhat Özkan
BMC Med Genomics. 2023; 16: 98. Published online 2023 May 9. doi: 10.1186/s12920-023-01529-4
PMCID:
PMC10169457
AbstractArticlePDF–1.1M
9.
ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
Ajay X. Thomas, Nichole Link, Laurie A. Robak, Gail Demmler‐Harrison, Emily C. Pao, Audrey E. Squire, Savannah Michels, Julie S. Cohen, Anne Comi, Paolo Prontera, Alberto Verrotti di Pianella, Giuseppe Di Cara, Livia Garavelli, Stefano Giuseppe Caraffi, Carlo Fusco, Roberta Zuntini, Kendall C. Parks, Elliott H. Sherr, Mais O. Hashem, Sateesh Maddirevula, Fowzan S. Alkuraya, Isphana A. F. Contractar, Jennifer E. Neil, Christopher A. Walsh, Hugo J. Bellen, Hsiao‐Tuan Chao, Robin D. Clark, Ghayda M. Mirzaa
Ann Clin Transl Neurol. 2022 Aug; 9(8): 1276–1288. Published online 2022 Jul 24. doi: 10.1002/acn3.51629
PMCID:
PMC9380164
AbstractArticlePDF–3.6M
10.
EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report
Ilaria Filareto, Giulia Cinelli, Ilaria Scalabrini, Elisa Caramaschi, Patrizia Bergonzini, Elisabetta Spezia, Alessandra Todeschini, Lorenzo Iughetti
Ital J Pediatr. 2022; 48: 128. Published online 2022 Jul 27. doi: 10.1186/s13052-022-01325-3
PMCID:
PMC9327270
AbstractArticlePDF–3.2M
11.
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients
Ilaria Di Donato, Antonio Gallo, Ivana Ricca, Nicola Fini, Gabriella Silvestri, Fiorella Gurrieri, Mario Cirillo, Alfonso Cerase, Gemma Natale, Federica Matrone, Vittorio Riso, Mariarosa Anna Beatrice Melone, Alessandra Tessa, Giovanna De Michele, Antonio Federico, Alessandro Filla, Maria Teresa Dotti, Filippo Maria Santorelli
Neurol Sci. 2022; 43(2): 1071–1077. Published online 2021 Jul 23. doi: 10.1007/s10072-021-05462-1
PMCID:
PMC8789690
AbstractArticlePDF–754K
12.
Neonatal neuronal WWOX gene therapy rescues Wwox null phenotypes
Srinivasarao Repudi, Irina Kustanovich, Sara Abu‐Swai, Shani Stern, Rami I Aqeilan
EMBO Mol Med. 2021 Dec 7; 13(12): e14599. Published online 2021 Nov 7. doi: 10.15252/emmm.202114599
PMCID:
PMC8649866
AbstractArticlePDF–11M
13.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Edgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Laura Planas-Serra, Irene de la Calle, Miquel Raspall-Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O’Leary, Emily O’Heir, Estibaliz Barredo, Almudena Chacón, Vincent Michaud, Cyril Goizet, Montserrat Ruiz, Agatha Schlüter, Isabelle Rouvet, Julia Sala-Coromina, Chiara Fossati, Maria Iascone, Francesco Canonico, Anna Marcé-Grau, Precilla de Souza, David R Adams, Carlos Casasnovas, Heidi L Rehm, Heather C Mefford, Luis González Gutierrez-Solana, Alfredo Brusco, Michel Koenig, Alfons Macaya, Aurora Pujol
Brain. 2021 Sep; 144(9): 2659–2669. Published online 2021 Aug 20. doi: 10.1093/brain/awab124
PMCID:
PMC8557332
AbstractArticlePDF–1.4M
14.
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Sandra Whalen, Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot Bastaraud, Cecile Cieuta Walti, Jan Liebelt, Frances Elmslie, Patrick Yap, Jane Hurst, Elisabeth Forsythe, Brian Kirmse, Jillian Ozmore, Alessandro Mauro Spinelli, Olga Calabrese, Thierry Billette de Villemeur, Anne Claude Tabet, Jonathan Levy, Agnes Guet, Manoëlle Kossorotoff, Benjamin Kamien, Jenny Morton, Anne McCabe, Elise Brischoux-Boucher, Annick Raas-Rothschild, Antonella Pini, Renée Carroll, Jessica N. Hartley, Care4Rare Canada Consortium, Patrick Frosk, Anne Slavotinek, Kristen Truxal, Carroll Jennifer, Annelies Dheedene, Hong Cui, Vishal Kumar, Glen Thomson, Florence Riccardi, Jozef Gecz, Laurent Villard
Eur J Hum Genet. 2021 Sep; 29(9): 1405–1417. Published online 2021 Feb 18. doi: 10.1038/s41431-021-00821-0
PMCID:
PMC8440520
AbstractArticlePDF–1.6M
15.
A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21
Vittorio Riso, Daniele Galatolo, Melissa Barghigiani, Serena Galosi, Alessandra Tessa, Ivana Ricca, Salvatore Rossi, Caterina Caputi, Ettore Cioffi, Vincenzo Leuzzi, Carlo Casali, Filippo M. Santorelli, Gabriella Silvestri
Eur J Neurol. 2021 Aug; 28(8): 2784–2788. Published online 2021 May 27. doi: 10.1111/ene.14868
PMCID:
PMC8361921
AbstractArticlePDF–301K
16.
Neurogenetics of Pelizaeus-Merzbacher disease
Joana M. Osorio, Steven A. Goldman
Handb Clin Neurol. Author manuscript; available in PMC 2021 Jun 1.
Published in final edited form as: Handb Clin Neurol. 2018; 148: 701–722. doi: 10.1016/B978-0-444-64076-5.00045-4
PMCID:
PMC8167836
AbstractArticlePDF–1.3M
17.
Charcot‐Marie‐Tooth Neuropathy Type 2 and P0 Point Mutations: Two Novel Amino Acid Substitutions (Asp61Gly; Tyr119Cys) and a Possible “Hotspot” on Thr124Met
Jan Senderek, Benita Hermanns, Ute Lehmann, Carsten Bergmann, Georg Marx, Christian Kabus, Vincent Timmerman, Gisela Stoltenburg‐Didinger, J. Michael Schröder
Brain Pathol. 2000 Apr; 10(2): 235–248. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.2000.tb00257.x
PMCID:
PMC8098375
SummaryPDF–266K
18.
New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform
Víctor Abad-Morales, Ana Wert, María Ángeles Ruiz Gómez, Rafael Navarro, Esther Pomares
Int J Mol Sci. 2021 Mar; 22(5): 2262. Published online 2021 Feb 24. doi: 10.3390/ijms22052262
PMCID:
PMC7956282
AbstractArticlePDF–1.6M
19.
Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant
Masataka Fukuoka, Shin Okazaki, Kiyohiro Kim, Megumi Nukui, Takeshi Inoue, Ichiro Kuki, Hisashi Kawawaki, Mitsuko Nakashima, Naomichi Matsumoto
Epilepsia Open. 2021 Mar; 6(1): 230–234. Published online 2021 Jan 7. doi: 10.1002/epi4.12431
PMCID:
PMC7918309
AbstractArticlePDF–832K
20.
A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy
Anna Letko, Katie M. Minor, Steven G. Friedenberg, G. Diane Shelton, Jill Pesayco Salvador, Paul J. J. Mandigers, Peter A. J. Leegwater, Paige A. Winkler, Simon M. Petersen-Jones, Bryden J. Stanley, Kari J. Ekenstedt, Gary S. Johnson, Liz Hansen, Vidhya Jagannathan, James R. Mickelson, Cord Drögemüller
Genes (Basel) 2020 Dec; 11(12): 1426. Published online 2020 Nov 27. doi: 10.3390/genes11121426
PMCID:
PMC7761076
AbstractArticlePDF–1.8M

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