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Select item 104006011.

Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia

Carola Hedberg-Oldfors, Sanhita Mitra, Angela Molinaro, Kittichate Visuttijai, Linda Fogelstrand, Anders Oldfors, Fredrik H. Sterky, Niklas Darin

Eur J Hum Genet. 2023 Aug; 31(8): 887–894. Published online 2023 Mar 20. doi: 10.1038/s41431-023-01327-7

PMCID:: PMC10400601

Abstract Article PDF–1.9M

Select item 83659962.

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis

Federica Pondrelli, Lorenzo Muccioli, Laura Licchetta, Barbara Mostacci, Corrado Zenesini, Paolo Tinuper, Luca Vignatelli, Francesca Bisulli

Orphanet J Rare Dis. 2021; 16: 362. Published online 2021 Aug 16. doi: 10.1186/s13023-021-01989-w

PMCID:: PMC8365996

Abstract Article PDF–1.0M

Select item 78278843.

The Identification of a Novel Fucosidosis-Associated FUCA1 Mutation: A Case of a 5-Year-Old Polish Girl with Two Additional Rare Chromosomal Aberrations and Affected DNA Methylation Patterns

Agnieszka Domin, Tomasz Zabek, Aleksandra Kwiatkowska, Tomasz Szmatola, Anna Deregowska, Anna Lewinska, Artur Mazur, Maciej Wnuk

Genes (Basel) 2021 Jan; 12(1): 74. Published online 2021 Jan 8. doi: 10.3390/genes12010074

PMCID:: PMC7827884

Abstract Article PDF–3.6M

Select item 73395794.

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese, Veronica Di Pisa, Maria Margherita Mancardi, Thea Giacomini, Laura Siri, Fabiana Vercellino, Domenico Serino, Alessandro Orsini, Alice Bonuccelli, Irene Bagnasco, Amanda Papa, Carlo Minetti, Duccio Maria Cordelli, Pasquale Striano

Ital J Pediatr. 2020; 46: 92. Published online 2020 Jul 6. doi: 10.1186/s13052-020-00860-1

PMCID:: PMC7339579

Abstract Article PDF–1.2M

Select item 72497415.

Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant

Héctor Cruz-Camino, Mercedes Vázquez-Cantú, Diana Laura Vázquez-Cantú, Jesús Santos-Guzmán, Antonio Bandala-Jacques, René Gómez-Gutiérrez, Consuelo Cantú-Reyna

Am J Case Rep. 2020; 21: e919463-1–e919463-5. Published online 2020 May 11. doi: 10.12659/AJCR.919463

PMCID:: PMC7249741

Abstract Article PDF–296K

Select item 63187686.

A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder

Michael Zech, Daniel D. Lam, Sandrina Weber, Riccardo Berutti, Kamila Poláková, Petra Havránková, Anna Fečíková, Tim M. Strom, Evžen Růžička, Robert Jech, Juliane Winkelmann

Cold Spring Harb Mol Case Stud. 2018 Dec; 4(6): a003293. doi: 10.1101/mcs.a003293

PMCID:: PMC6318768

Abstract Article PDF–3.6M

Select item 61606547.

Computed tomography provides enhanced techniques for longitudinal monitoring of progressive intracranial volume loss associated with regional neurodegeneration in ovine neuronal ceroid lipofuscinoses

Katharina N. Russell, Nadia L. Mitchell, Nigel G. Anderson, Craig R. Bunt, Martin P. Wellby, Tracy R. Melzer, Graham K. Barrell, David N. Palmer

Brain Behav. 2018 Sep; 8(9): e01096. Published online 2018 Aug 23. doi: 10.1002/brb3.1096

PMCID:: PMC6160654

Abstract Article PDF–590K

Select item 53226258.

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

Margaret M. McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove

Orphanet J Rare Dis. 2017; 12: 41. Published online 2017 Feb 23. doi: 10.1186/s13023-017-0572-x

PMCID:: PMC5322625

Abstract Article PDF–1.1M

Select item 51110039.

Genome sequencing in a case of Niemann–Pick type C

Max Dougherty, John Lazar, Jason C. Klein, Karina Diaz, Theodore Gobillot, Eli Grunblatt, Nicholas Hasle, Daniel Lawrence, Megan Maurano, Maria Nelson, Gregory Olson, Sanjay Srivatsan, Jay Shendure, C. Dirk Keene, Thomas Bird, Marshall S. Horwitz, Desiree A. Marshall

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001222. doi: 10.1101/mcs.a001222

PMCID:: PMC5111003

Abstract Article PDF–1.6M

Select item 464433910.

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report

M. Zerkaoui, I. Ratbi, B. Castellotti, C. Gellera, J. Lyahyai, Y. Kriouile, A. Sefiani

BMC Pediatr. 2015; 15: 182. Published online 2015 Nov 13. doi: 10.1186/s12887-015-0490-9

PMCID:: PMC4644339

Abstract Article PDF–580K

Select item 332181611.

Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease

Anne-Hélène Lebrun, Parisa Moll-Khosrawi, Sandra Pohl, Georgia Makrypidi, Stephan Storch, Dirk Kilian, Thomas Streichert, Benjamin Otto, Sara E Mole, Kurt Ullrich, Susan Cotman, Alfried Kohlschütter, Thomas Braulke, Angela Schulz

Mol Med. 2011 Nov-Dec; 17(11-12): 1253–1261. Published online 2011 Aug 18. doi: 10.2119/molmed.2010.00241

PMCID:: PMC3321816

Abstract Article PDF–959K

Select item 195091712.

The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A. Minassian, Andrew D. Paterson, Xiao-Qing Liu, Callum Wilson, Ulla Lahtinen, Anna-Kaisa Anttonen, Anna-Elina Lehesjoki

Am J Hum Genet. 2007 Jul; 81(1): 136–146. Published online 2007 May 14. doi: 10.1086/518902

PMCID:: PMC1950917

Abstract Article PDF–701K

Select item 1055035313.

Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants

Letícia Pereira de Brito Sampaio, Adélia Maria de Miranda Henriques-Souza, Mariana Ribeiro Marcondes da Silveira, Lisiane Seguti, Mara Lúcia Schmitz Ferreira Santos, Maria Augusta Montenegro, Sérgio Antoniuk, Maria Luíza Giraldes de Manreza

Arq Neuropsiquiatr. 2023 Sep; 81(9): 844–856. Published online 2023 Oct 4. doi: 10.1055/s-0043-1772835

PMCID:: PMC10550353

Abstract Article PDF–2.2M

Select item 950319314.

Characteristics of very late-onset schizophrenia-like psychosis as prodromal dementia with Lewy bodies: a cross-sectional study

Hideki Kanemoto, Yuto Satake, Takashi Suehiro, Daiki Taomoto, Fuyuki Koizumi, Shunsuke Sato, Tamiki Wada, Keiko Matsunaga, Eku Shimosegawa, Mamoru Hashimoto, Kenji Yoshiyama, Manabu Ikeda

Alzheimers Res Ther. 2022; 14: 137. Published online 2022 Sep 22. doi: 10.1186/s13195-022-01080-x