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KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
Infographic. Multiligament knee injury (MLKI): an expert consensus statement on nomenclature, diagnosis, treatment and rehabilitation.
Murray IR, Makaram NS, Neo C, Geeslin AG, Chahla J, Moatshe G, Crossley K, Kew ME, Davis A, Tuca M, Potter H, Janse van Rensburg DC, Emery CA, Eun S, Grindem H, Noyes FR, Marx RG, Harner C, Levy BA, King E, Cook JL, Whelan DB, Hatch GF 3rd, Wahl CJ, Thorborg K, Irrgang JJ, Pujol N, Medvecky MJ, Stuart MJ, Krych AJ, Engebretsen L, Stannard JP, MacDonald P, Seil R, Fanelli GC, Maak TG, Shelbourne KD, Verhagen E, Musahl V, Hirschmann MT, Miller MD, Schenck RC, LaPrade RF; MLKI International Expert Working Group. Murray IR, et al. Among authors: wahl cj. Br J Sports Med. 2024 Dec 2;58(23):1463-1465. doi: 10.1136/bjsports-2024-109051. Br J Sports Med. 2024. PMID: 39496479 No abstract available.
Multiligament knee injury (MLKI): an expert consensus statement on nomenclature, diagnosis, treatment and rehabilitation.
Murray IR, Makaram NS, Geeslin AG, Chahla J, Moatshe G, Crossley K, Kew ME, Davis A, Tuca M, Potter H, Janse van Rensburg DC, Emery CA, Eun S, Grindem H, Noyes FR, Marx RG, Harner C, Levy BA, King E, Cook JL, Whelan DB, Hatch GF 3rd, Wahl CJ, Thorborg K, Irrgang JJ, Pujol N, Medvecky MJ, Stuart MJ, Krych AJ, Engebretsen L, Stannard JP, MacDonald P, Seil R, Fanelli GC, Maak TG, Shelbourne KD, Verhagen E, Musahl V, Hirschmann MT, Miller MD, Schenck RC, LaPrade RF. Murray IR, et al. Among authors: wahl cj. Br J Sports Med. 2024 Dec 2;58(23):1385-1400. doi: 10.1136/bjsports-2024-108089. Br J Sports Med. 2024. PMID: 39237264
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO; Undiagnosed Diseases Network; Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Borroto MC, et al. Pediatr Neurol. 2024 Nov;160:45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. Epub 2024 Jul 20. Pediatr Neurol. 2024. PMID: 39181022 Free article.
Population-Based Evidence for the Use of Serum Neurofilaments as Individual Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis.
Witzel S, Huss A, Nagel G, Rosenbohm A, Rothenbacher D, Peter RS, Bäzner H, Börtlein A, Dempewolf S, Schabet M, Hecht M, Kohler A, Opherk C, Naegele A, Sommer N, Lindner A, Alexudis C, Bachhuber F, Halbgebauer S, Brenner D, Ruf W, Weiland U, Mayer B, Schuster J, Dorst J, Tumani H, Ludolph AC; and the ALS Registry Swabia Study Group. Witzel S, et al. Ann Neurol. 2024 Dec;96(6):1040-1057. doi: 10.1002/ana.27054. Epub 2024 Aug 23. Ann Neurol. 2024. PMID: 39177232
294 results