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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Morsy H, et al. Among authors: butterfield r. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. Genet Med. 2023. PMID: 36331550 Free PMC article.
Meeting report: The 2022 FSHD International Research Congress.
Leung DG, Kinoshita J, Arjomand J, Dumonceaux J; 2022 FSHD IRC Program committee and co-chairs. Leung DG, et al. Neuromuscul Disord. 2023 Feb;33(2):196-198. doi: 10.1016/j.nmd.2022.12.005. Epub 2022 Dec 13. Neuromuscul Disord. 2023. PMID: 36682112 No abstract available.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM. Lemmers RJLF, et al. Among authors: butterfield r. Brain. 2024 Feb 1;147(2):414-426. doi: 10.1093/brain/awad312. Brain. 2024. PMID: 37703328 Free PMC article.
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.
Lietsch M, Chan K, Taylor J, Lee BH, Ciafaloni E, Kwon JM, Waldrop MA, Butterfield RJ, Rathore G, Veerapandiyan A, Kapil A, Parsons JA, Gibbons M, Brower A. Lietsch M, et al. Among authors: butterfield rj. Int J Neonatal Screen. 2024 Apr 18;10(2):34. doi: 10.3390/ijns10020034. Int J Neonatal Screen. 2024. PMID: 38651399 Free PMC article.
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy.
Zaidman CM, Goedeker NL, Aqul AA, Butterfield RJ, Connolly AM, Crystal RG, Godwin KE, Hor KN, Mathews KD, Proud CM, Kula Smyth E, Veerapandiyan A, Watkins PB, Mendell JR. Zaidman CM, et al. Among authors: butterfield rj. J Neuromuscul Dis. 2024;11(3):687-699. doi: 10.3233/JND-230185. J Neuromuscul Dis. 2024. PMID: 38607761
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: butterfield rj. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Neuroinvasive West Nile Virus Infection in Immunosuppressed and Immunocompetent Adults.
Mbonde AA, Gritsch D, Harahsheh EY, Kasule SN, Hasan S, Parsons AM, Zhang N, Butterfield R, Shiue H, Norville KA, Reynolds JL, Vikram HR, Chong B, Grill MF. Mbonde AA, et al. Among authors: butterfield r. JAMA Netw Open. 2024 Mar 4;7(3):e244294. doi: 10.1001/jamanetworkopen.2024.4294. JAMA Netw Open. 2024. PMID: 38546642 Free PMC article.
253 results