Articles
- Open AccessNext-generation sequencing approach to hyperCKemiaA 2-year cohort studyAnna Rubegni, Alessandro Malandrini, Claudia Dosi, Guja Astrea, Jacopo Baldacci, Carla Battisti, Giulia Bertocci, M. Alice Donati, M. Teresa Dotti, Antonio Federico, Fabio Giannini, Salvatore Grosso, Renzo Guerrini, Sara Lenzi, Maria A. Maioli, Federico Melani, Eugenio Mercuri, Michele Sacchini, Simona Salvatore, Gabriele Siciliano, Deborah Tolomeo, Paola Tonin, Nila Volpi, Filippo M. Santorelli, Denise Cassandrini
- Open AccessImpaired kidney structure and function in spinal muscular atrophyFlávia C. Nery, Jennifer J. Siranosian, Ivy Rosales, Marc-Olivier Deguise, Amita Sharma, Abdurrahman W. Muhtaseb, Pann Nwe, Alec J. Johnstone, Ren Zhang, Maryam Fatouraei, Natassja Huemer, Christiano R.R. Alves, Rashmi Kothary, Kathryn J. Swoboda
- Open AccessA family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutationChangrui Xiao, Elaine M. Binkley, Jessica Rexach, Amy Knight-Johnson, Pravin Khemani, Brent L. Fogel, Soma Das, Edwin M. Stone, Christopher M. Gomez
- Open AccessEpidemiology of DYT1 dystoniaEstimating prevalence via genetic ascertainmentJoseph Park, Scott M. Damrauer, Aris Baras, Jeffrey G. Reid, John D. Overton, Pedro Gonzalez-Alegre
- Open AccessHomozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxiaAreej Mahjoub, Zuzana Cihlarova, Martine Tétreault, Lauren MacNeil, Neal Sondheimer, Keith W. Caldecott, Hana Hanzlikova, Grace Yoon, on behalf of the Care4Rare Canada Consortium
Clinical/Scientific Notes
- Open AccessFatal TTR amyloidosis with neuropathy from domino liver p.Val71Ala transplantRoss C. Puffer, Robert J. Spinner, Hongyan Bi, Rishi Sharma, Yucai Wang, Jason D. Theis, Ellen D. McPhail, John J. Poterucha, Zhiyv Niu, Christopher J. Klein
- Open AccessA novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviorsHossein Darvish, Luis J. Azcona, Elham Alehabib, Faezeh Jamali, Abbas Tafakhori, Sakineh Ranji-Burachaloo, Joanna C. Jen, Coro Paisán-Ruiz
- Open AccessEnhancement of cranial nerves, conus medullaris, and nerve roots in POLG mitochondrial diseaseMichael Bayat, Yousef Yavarian, Allan Bayat, Jakob Christensen
- Open AccessDigital necrosis in an infant with severe spinal muscular atrophyDiana Carrasco, Pilar Magoulas, Jennifer C. Scull, Jill A. Jarrell, Seema R. Lalani, Michael F. Wangler
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