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162 results

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Page 1
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos G, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathy Consortium; McCray BA. Kosmanopoulos G, et al. Among authors: crawford to. Brain. 2024 Jun 25:awae201. doi: 10.1093/brain/awae201. Online ahead of print. Brain. 2024. PMID: 38917025
Combined clinical, structural, and cellular studies discriminate pathogenic and benign TRPV4 variants.
Berth SH, Vo L, Kwon DH, Grider T, Damayanti YS, Kosmanopoulos G, Fox A, Lau AR, Carr P, Donohue JK, Hoke M, Thomas S, Karim C, Fay AJ, Meltzer E, Crawford TO, Gaudet R, Shy ME, Hellmich UA, Lee SY, Sumner CJ, McCray BA. Berth SH, et al. Among authors: crawford to. Brain. 2024 Jul 18:awae243. doi: 10.1093/brain/awae243. Online ahead of print. Brain. 2024. PMID: 39021275
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.
Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, Fanin M, Martinello F, Trevisan CP, Angelini C, Stella A, Scavina M, Munk RL, Servidei S, Bönnemann CC, Bertorini T, Acsadi G, Thompson CE, Gagnon D, Hoganson G, Carver V, Zimmerman RA, Hoffman EP. Pegoraro E, et al. Neurology. 1998 Jul;51(1):101-10. doi: 10.1212/wnl.51.1.101. Neurology. 1998. PMID: 9674786
Molecular basis of neuromuscular diseases.
Chance PF, Ashizawa T, Hoffman EP, Crawford TO. Chance PF, et al. Among authors: crawford to. Phys Med Rehabil Clin N Am. 1998 Feb;9(1):49-81, vi. Phys Med Rehabil Clin N Am. 1998. PMID: 9894134 Review.
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, Scheffer I, Cooper EC, Ricci S, Cusmai R, Crawford TO, Leroy R, Andermann E, Wheless JW, Dobyns WB, Walsh CA, et al. Gleeson JG, et al. Among authors: crawford to. Ann Neurol. 1999 Feb;45(2):146-53. doi: 10.1002/1531-8249(199902)45:2<146::aid-ana3>3.0.co;2-n. Ann Neurol. 1999. PMID: 9989615
Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia.
Magnarelli A, Liu Q, Wang F, Peng XP, Wright J, Oak N, Natale V, Rothblum-Oviatt C, Lefton-Greif MA, McGrath-Morrow S, Crawford TO, Ehrhardt MJ, Lederman HM, Sharma R. Magnarelli A, et al. Among authors: crawford to. J Allergy Clin Immunol. 2024 Nov 8:S0091-6749(24)01167-9. doi: 10.1016/j.jaci.2024.10.023. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39521281 Free article.
Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study.
Crawford TO, Day JW, De Vivo DC, Krueger JM, Mercuri E, Nascimento A, Pasternak A, Mazzone ES, Duong T, Song G, Marantz JL, Baver S, Yu D, Liu L, Darras BT. Crawford TO, et al. Front Neurol. 2024 Jul 22;15:1419791. doi: 10.3389/fneur.2024.1419791. eCollection 2024. Front Neurol. 2024. PMID: 39105058 Free PMC article.
162 results