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Select item 114929541.

VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial

Lorenzo Muccioli, Luca Vignatelli, Maria Tappatà, Serena Mazzone, Corrado Zenesini, Dustin Armstrong, DEFEAT-LD study group, Roberto Michelucci, Francesca Bisulli

BMJ Open. 2024; 14(10): e085062. Published online 2024 Oct 18. doi: 10.1136/bmjopen-2024-085062

PMCID:: PMC11492954

Article PDF–609K

Select item 106947422.

Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus

Kaoru Eto, Rina Itagaki, Ayumi Takamura, Yoshikatsu Eto, Satoru Nagata

Mol Genet Metab Rep. 2023 Dec; 37: 101019. Published online 2023 Nov 8. doi: 10.1016/j.ymgmr.2023.101019

PMCID:: PMC10694742

Article PDF–1.1M

Select item 105503533.

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

Article PDF–2.2M

Select item 104006014.

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

Article PDF–1.9M

Select item 95031935.

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

PMCID:: PMC9503193

Article PDF–1.1M

Select item 92982766.

Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy

Yongyi Zou, Haiyan Luo, Huizhen Yuan, Kang Xie, Yan Yang, Shuhui Huang, Bicheng Yang, Yanqiu Liu

Front Neurol. 2022; 13: 904027. Published online 2022 Jul 6. doi: 10.3389/fneur.2022.904027

PMCID:: PMC9298276

Article PDF–1.0M

Select item 83659967.

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

Article PDF–1.0M

Select item 80958938.

Hippocampal Pathology in the Human Neuronal Ceroid‐Lipofuscinoses: Distinct Patterns of Storage Deposition, Neurodegeneration and Glial Activation

Jaana Tyynelä, Jonathan D Cooper, M Nadeem Khan, Stephen JA Shemilt, Matti Haltia

Brain Pathol. 2004 Oct; 14(4): 349–357. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.2004.tb00077.x

PMCID:: PMC8095893

Summary PDF–837K

Select item 78278849.

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

Article PDF–3.6M

Select item 733957910.

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

Article PDF–1.2M

Select item 724974111.

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

Article PDF–296K

Select item 631876812.

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

Article PDF–3.6M

Select item 616065413.

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

Article PDF–590K

Select item 534923114.

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease

Subha Karumuthil-Melethil, Sahana Nagabhushan Kalburgi, Patrick Thompson, Michael Tropak, Michael D. Kaytor, John G. Keimel, Brian L. Mark, Don Mahuran, Jagdeep S. Walia, Steven J. Gray

Hum Gene Ther. 2016 Jul 1; 27(7): 509–521. Published online 2016 Jul 1. doi: 10.1089/hum.2016.013

PMCID:: PMC5349231

Article PDF–800K

Select item 532262515.

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

Article PDF–1.1M

Select item 511100316.

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

Article PDF–1.6M

Select item 464433917.

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

Article PDF–580K

Select item 332181618.

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