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Select item 52581101.

Diagnostic approach to the congenital muscular dystrophies

Carsten G. Bönnemann, Ching H. Wang, Susana Quijano-Roy, Nicolas Deconinck, Enrico Bertini, Ana Ferreiro, Francesco Muntoni, Caroline Sewry, Christophe Béroud, Katherine D. Mathews, Steven A. Moore, Jonathan Bellini, Anne Rutkowski, Kathryn N. North

Neuromuscul Disord. Author manuscript; available in PMC 2017 Jan 23.

Published in final edited form as: Neuromuscul Disord. 2014 Apr; 24(4): 289–311. Published online 2014 Jan 9. doi: 10.1016/j.nmd.2013.12.011

PMCID:: PMC5258110

Abstract Article PDF–2.1M

Select item 110840012.

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, Jr., M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium

J Neurodev Disord. 2024; 16: 25. Published online 2024 May 10. doi: 10.1186/s11689-024-09541-0

PMCID:: PMC11084001

Abstract Article PDF–1.1M

Select item 110820093.

GBA-associated Parkinson’s disease in Hungary: clinical features and genetic insights

Tamás Szlepák, Annabel P. Kossev, Dóra Csabán, Anett Illés, Szabolcs Udvari, Péter Balicza, Beáta Borsos, Annamária Takáts, Péter Klivényi, Mária J. Molnár

Neurol Sci. 2024; 45(6): 2671–2679. Published online 2023 Dec 28. doi: 10.1007/s10072-023-07213-w

PMCID:: PMC11082009

Abstract Article PDF–545K

Select item 110763364.

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature

Ettore Cioffi, Gianluca Coppola, Olimpia Musumeci, Salvatore Gallone, Gabriella Silvestri, Salvatore Rossi, Fiorella Piemonte, Jessica D’Amico, Alessandra Tessa, Filippo Maria Santorelli, Carlo Casali

Neurogenetics. 2024; 25(2): 51–67. Published online 2024 Feb 9. doi: 10.1007/s10048-024-00749-9

PMCID:: PMC11076336

Abstract Article PDF–1.1M

Select item 110752295.

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report

Shaoping Zhong, Jianying Liu, Yangye Lian, Binbin Zhou, Xin Wang, Jing Ding

BMC Neurol. 2024; 24: 154. Published online 2024 May 7. doi: 10.1186/s12883-024-03641-z

PMCID:: PMC11075229

Abstract Article PDF–3.1M

Select item 110682126.

Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation

Mikel Muñoz-Oreja, Abigail Sandoval, Ove Bruland, Diego Perez-Rodriguez, Uxoa Fernandez-Pelayo, Amaia Lopez de Arbina, Marina Villar-Fernandez, Haizea Hernández-Eguiazu, Ixiar Hernández, Yohan Park, Leire Goicoechea, Nerea Pascual-Frías, Carmen Garcia-Ruiz, Jose Fernandez-Checa, Itxaso Martí-Carrera, Francisco Javier Gil-Bea, Mazahir T Hasan, Matthew E Gegg, Cecilie Bredrup, Per-Morten Knappskog, Gorka Gereñu-Lopetegui, Kristin N Varhaug, Laurence A Bindoff, Antonella Spinazzola, Wan Hee Yoon, Ian J Holt

Brain. 2024 May; 147(5): 1899–1913. Published online 2024 Jan 18. doi: 10.1093/brain/awae018

PMCID:: PMC11068212

Abstract Article PDF–1.2M

Select item 110611737.

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth

Frederike L. Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D. M. Pena, Theodosia A. Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche

Eur J Hum Genet. 2024 May; 32(5): 558–566. Published online 2024 Feb 19. doi: 10.1038/s41431-024-01563-5

PMCID:: PMC11061173

Abstract Article PDF–1.8M

Select item 110608348.

Age-dependent cognitive changes in carriers of the Fragile X Syndrome

Kim M. Cornish, Lexin Li, Cary S. Kogan, Sebastien Jacquemont, Jeremy Turk, Ann Dalton, Randi J. Hagerman., Paul J. Hagerman

Cortex. Author manuscript; available in PMC 2024 Apr 30.

Published in final edited form as: Cortex. 2008 Jun; 44(6): 628–636. Published online 2007 Dec 23. doi: 10.1016/j.cortex.2006.11.002

PMCID:: PMC11060834

Abstract Article PDF–254K

Select item 110607429.

Chronic SIV-Induced neuroinflammation disrupts CCR7⁺ CD4⁺ T cell immunosurveillance in the rhesus macaque brain

Sonny R. Elizaldi, Chase E. Hawes, Anil Verma, Yashavanth Shaan Lakshmanappa, Ashok R. Dinasarapu, Brent T. Schlegel, Dhivyaa Rajasundaram, Jie Li, Blythe P. Durbin-Johnson, Zhong-Min Ma, Pabitra B. Pal, Danielle Beckman, Sean Ott, Reben Raeman, Jeffrey Lifson, John H. Morrison, Smita S. Iyer

J Clin Invest. 2024 May 1; 134(9): e175332. Published online 2024 Mar 12. doi: 10.1172/JCI175332

PMCID:: PMC11060742

Abstract Article PDF–16M

Select item 1106046810.

Case Series of Jamestown Canyon Virus Infections with Neurologic Outcomes, Canada, 2011–2016

Vanessa Meier-Stephenson, Michael A. Drebot, Kristina Dimitrova, Melanie DiQuinzio, Kevin Fonseca, David Forrest, Todd Hatchette, Muhammad Morshed, Glen Patriquin, Guillaume Poliquin, Lynora Saxinger, Bouchra Serhir, Raymond Tellier, Christian Therrien, Linda Vrbova, Heidi Wood

Emerg Infect Dis. 2024 May; 30(5): 874–881. doi: 10.3201/eid3005.221258

PMCID:: PMC11060468

Abstract Article PDF–713K

Select item 1105577111.

Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech

J Neurol. 2024; 271(5): 2859–2865. Published online 2024 Mar 5. doi: 10.1007/s00415-024-12271-x

PMCID:: PMC11055771

Abstract Article PDF–457K

Select item 1105568912.

RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile

David Pellerin, Felix Heindl, Andreas Traschütz, Dan Rujescu, Annette M. Hartmann, Bernard Brais, Henry Houlden, Claudia Dufke, Olaf Riess, Tobias Haack, Michael Strupp, Matthis Synofzik

J Neurol. 2024; 271(5): 2886–2892. Published online 2024 Feb 21. doi: 10.1007/s00415-024-12229-z

PMCID:: PMC11055689

Abstract Article PDF–696K

Select item 1105043513.

A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report

Marta Badeńska, Małgorzata Pac, Andrzej Badeński, Karolina Rutkowska, Justyna Czubilińska-Łada, Rafał Płoski, Nadezda Bohynikova, Maria Szczepańska

Int J Mol Sci. 2024 Apr; 25(8): 4486. Published online 2024 Apr 19. doi: 10.3390/ijms25084486

PMCID:: PMC11050435

Abstract Article PDF–1.2M

Select item 1105008514.

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

Abstract Article PDF–734K

Select item 1104934115.

Structural Features and Physiological Associations of Human 14-3-3ζ Pseudogenes

Haroon Lughmani, Hrushil Patel, Ritu Chakravarti

Genes (Basel) 2024 Apr; 15(4): 399. Published online 2024 Mar 24. doi: 10.3390/genes15040399

PMCID:: PMC11049341

Abstract Article PDF–2.8M

Select item 1104338516.

Long extrachromosomal circular DNA identification by fusing sequence-derived features of physicochemical properties and nucleotide distribution patterns

Ahtisham Fazeel Abbasi, Muhammad Nabeel Asim, Sheraz Ahmed, Andreas Dengel

Sci Rep. 2024; 14: 9466. Published online 2024 Apr 24. doi: 10.1038/s41598-024-57457-5

PMCID:: PMC11043385

Abstract Article PDF–3.9M

Select item 1104092217.

Simple modeling of familial Alzheimer’s disease using human pluripotent stem cell-derived cerebral organoid technology

Mu Seog Choe, Han Cheol Yeo, Joong Sun Kim, Jean Lee, Hae Jun Lee, Hyung-Ryong Kim, Kyung Min Baek, Na-Yeon Jung, Murim Choi, Min Young Lee

Stem Cell Res Ther. 2024; 15: 118. Published online 2024 Apr 24. doi: 10.1186/s13287-024-03732-1

PMCID:: PMC11040922

Abstract Article PDF–14M

Select item 1103658018.

Clinical, pathologic, and genomic characteristics of two pediatric glioneuronal tumors with a CLIP2::MET fusion

Nicholas Chapman, Joshua Greenwald, Jolee Suddock, Dong Xu, Alexander Markowitz, Maeve Humphrey, Jennifer A Cotter, Mark D Krieger, Debra Hawes, Jianling Ji

Acta Neuropathol Commun. 2024; 12: 63. Published online 2024 Apr 22. doi: 10.1186/s40478-024-01776-1