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Select item 109332991.

Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity

Nathaniel Safren, Thuy P. Dao, Harihar Milaganur Mohan, Camellia Huang, Bryce Trotter, Carlos A. Castañeda, Henry Paulson, Sami Barmada, Lisa M. Sharkey

Sci Rep. 2024; 14: 6049. Published online 2024 Mar 13. doi: 10.1038/s41598-024-55582-9

PMCID:: PMC10933299

Article PDF–2.7M

Select item 108146852.

PKD1L1 Is Involved in Congenital Chylothorax

Jonathan B. Whitchurch, Sophia Schneider, Alina C. Hilger, Ricarda Köllges, Jil D. Stegmann, Lea Waffenschmidt, Laura Dyer, Holger Thiele, Bhanupriya Dhabhai, Tikam Chand Dakal, Andreas Müller, Dominic P. Norris, Heiko M. Reutter

Cells. 2024 Jan; 13(2): 149. Published online 2024 Jan 12. doi: 10.3390/cells13020149

PMCID:: PMC10814685

Article PDF–13M

Select item 107680973.

A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation

Xin Xu, Fen Lu, Senjie Du, Li Zhang

BMC Pediatr. 2024; 24: 21. Published online 2024 Jan 5. doi: 10.1186/s12887-023-04441-z

PMCID:: PMC10768097

Article PDF–1.5M

Select item 106210854.

Concurrent fabry disease and immunoglobulin a nephropathy: a case report

Li-Na Zhou, Shao-Shao Dong, Sheng-Ze Zhang, Li-Wa Huang, Wen Huang

BMC Nephrol. 2023; 24: 324. Published online 2023 Nov 1. doi: 10.1186/s12882-023-03282-3

PMCID:: PMC10621085

Article PDF–2.1M

Select item 104246575.

A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy

Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort, Soledad Monges, Julie S. Cohen, Doris G. Leung, Francina Munell, Carlos Ortez, Angel Sánchez‐Montáñez, Peter Karachunski, John Brandsema, Livija Medne, Vinay Chaudhry, Giorgio Tasca, A. Reghan Foley, Bjarne Udd, Andrew E. Arai, Glenn A. Walter, Carsten G. Bönnemann

Ann Clin Transl Neurol. 2023 Aug; 10(8): 1442–1455. Published online 2023 Jul 22. doi: 10.1002/acn3.51834

PMCID:: PMC10424657

Article PDF–8.6M

Select item 101473786.

Axon guidance genes modulate neurotoxicity of ALS-associated UBQLN2

Sang Hwa Kim, Kye D Nichols, Eric N Anderson, Yining Liu, Nandini Ramesh, Weiyan Jia, Connor J Kuerbis, Mark Scalf, Lloyd M Smith, Udai Bhan Pandey, Randal S Tibbetts

eLife. 2023; 12: e84382. Published online 2023 Apr 11. doi: 10.7554/eLife.84382

PMCID:: PMC10147378

Article PDF–33M

Select item 100582137.

In Silico Exploration of Metabolically Active Peptides as Potential Therapeutic Agents against Amyotrophic Lateral Sclerosis

Toluwase Hezekiah Fatoki, Stanley Chukwuejim, Chibuike C. Udenigwe, Rotimi E. Aluko

Int J Mol Sci. 2023 Mar; 24(6): 5828. Published online 2023 Mar 18. doi: 10.3390/ijms24065828

PMCID:: PMC10058213

Article PDF–4.5M

Select item 100243608.

Brain magnetic resonance imaging in the DE50-MD dog model of Duchenne muscular dystrophy reveals regional reductions in cerebral gray matter

Abbe H. Crawford, Natasha L. Hornby, Alerie G. de la Fuente, Richard J. Piercy

BMC Neurosci. 2023; 24: 21. Published online 2023 Mar 17. doi: 10.1186/s12868-023-00788-2

PMCID:: PMC10024360

Article PDF–1.6M

Select item 99769829.

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases

Alberto A Zambon, Veronica Pini, Luca Bosco, Yuri M Falzone, Pinki Munot, Francesco Muntoni, Stefano C Previtali

Brain. 2023 Mar; 146(3): 806–822. Published online 2022 Nov 29. doi: 10.1093/brain/awac452

PMCID:: PMC9976982

Article PDF–816K

Select item 958362010.

OFCD Syndrome and Extraembryonic Defects are Revealed by Conditional Mutation of the Polycomb-group Repressive Complex 1.1 (PRC1.1) Gene Bcor

Michelle Y. Hamline, Connie M. Corcoran, Joseph A. Wamstad, Isabelle Miletich, Jifan Feng, Jamie L. Lohr, Myriam Hemberger, Paul T. Sharpe, Micah D. Gearhart, Vivian J. Bardwell

Dev Biol. Author manuscript; available in PMC 2022 Oct 20.

Published in final edited form as: Dev Biol. 2020 Dec 1; 468(1-2): 110–132. Published online 2020 Jul 18. doi: 10.1016/j.ydbio.2020.06.013

PMCID:: PMC9583620

Article PDF–4.9M

Select item 934920411.

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes

Katinka Breuer, Korbinian M. Riedhammer, Nicole Müller, Birthe Schaidinger, Gregor Dombrowsky, Sven Dittrich, Susanne Zeidler, Ulrike M. M. Bauer, Dominik S. Westphal, Thomas Meitinger, Tikam Chand Dakal, Marc-Phillip Hitz, Johannes Breuer, Heiko Reutter, Alina C. Hilger, Julia Hoefele

Eur J Hum Genet. 2022 Aug; 30(8): 946–954. Published online 2022 Apr 26. doi: 10.1038/s41431-022-01100-2

PMCID:: PMC9349204

Article PDF–1.8M

Select item 910745512.

Glycoprotein nonmetastatic melanoma protein B (GNMPB) as a novel biomarker for cerebral adrenoleukodystrophy

Leyla A. Taghizadeh, Carina J. King, David R. Nascene, Ashish O. Gupta, Paul J. Orchard, LeeAnn Higgins, Todd W. Markowski, Erin E. Nolan, Justin W. Furcich, Troy C. Lund

Sci Rep. 2022; 12: 7985. Published online 2022 May 14. doi: 10.1038/s41598-022-11552-7

PMCID:: PMC9107455

Article PDF–1.8M

Select item 903755513.

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth

Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177