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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1971 4
1972 2
1973 3
1974 2
1975 5
1976 1
1977 1
1978 3
1979 3
1980 2
1981 10
1982 5
1983 2
1984 6
1985 5
1986 7
1987 5
1988 8
1989 5
1990 3
1991 7
1992 6
1993 9
1994 3
1995 6
1996 5
1997 5
1998 4
1999 1
2000 2
2001 3
2002 1
2003 1
2004 2
2005 1
2006 3
2007 3
2008 2
2009 1
2010 3
2011 4
2012 2
2013 1
2019 3
2021 2
2022 5
2023 9
2024 11
2025 8

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190 results

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Page 1
Genetic pain loss disorders.
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Lischka A, et al. Among authors: record cj. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. Nat Rev Dis Primers. 2022. PMID: 35710757 Review.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination.
Ayuso-García P, Sánchez-Rueda A, Velasco-Avilés S, Tamayo-Caro M, Ferrer-Pinós A, Huarte-Sebastian C, Alvarez V, Riobello C, Jiménez-Vega S, Buendia I, Cañas-Martin J, Fernández-Susavila H, Aparicio-Rey A, Esquinas-Román EM, Ponte CR, Guhl R, Laville N, Pérez-Andrés E, Lavín JL, González-Lopez M, Cámara NM, Aransay AM, Lozano JJ, Sutherland JD, Barrio R, Martinez-Chantar ML, Azkargorta M, Elortza F, Soriano-Navarro M, Matute C, Sánchez-Gómez MV, Bayón-Cordero L, Pérez-Samartín A, Bravo SB, Kurz T, Lama-Díaz T, Blanco MG, Haddad S, Record CJ, van Hasselt PM, Reilly MM, Varela-Rey M, Woodhoo A. Ayuso-García P, et al. Among authors: record cj. Sci Adv. 2024 Apr 12;10(15):eadm7600. doi: 10.1126/sciadv.adm7600. Epub 2024 Apr 12. Sci Adv. 2024. PMID: 38608019 Free PMC article.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: record cj. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG. Wilson LA, et al. Among authors: record cj. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Dominik N, Efthymiou S, Record CJ, Miao X, Lin RQ, Parmar JM, Scardamaglia A, Maroofian R, Lowe SA, Aughey GN, Wilson AD, Curro R, Schnekenberg RP, Alavi S, Leclaire L, He Y, Zhelcheska K, Bellaiche Y, Gaugué I, Skorupinska M, Van de Vondel L, Da'as SI, Turchetti V, Güngör S, Monahan GV, Ghayoor Karimiani E, Jamshidi Y, Lamont PJ, Armirola-Ricaurte C, Topaloglu H, Jordanova A, Zaman M, Banu SH, Marques W, Tomaselli PJ, Aynekin B, Cansu A, Per H, Güleç A, Alvi JR, Sultan T, Khan A, Zifarelli G, Ibrahim S, Mancini GMS, Motazacker MM, Brusse E, Lupo V, Sevilla T, Başak AN, Tekgul S, Palvadeau RJ, Baets J, Parman Y, Çakar A, Horvath R, Haack TB, Stahl JH, Grundmann-Hauser K, Park J, Zuchner S, Laing NG, Wilson LA, Rossor AM, Polke J, Figueiredo FB, Pessoa A, Kok F, Coimbra-Neto AR, Franca MC Jr, Ravenscroft G, Hamed SA, Chung WK, Pittman AM, Osborn DP, Hanna M, Cortese A, Reilly MM, Jepson JE, Lamarche-Vane N, Houlden H. Dominik N, et al. Among authors: record cj. J Clin Invest. 2025 Oct 14:e184474. doi: 10.1172/JCI184474. Online ahead of print. J Clin Invest. 2025. PMID: 41086021 Free article.
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.
Harkness JR, McDermott JH, Marsden S, Jamieson P, Metcalfe KA, Khan N, Macken WL, Pitceathly RDS, Record CJ, Maroofian R, Kleopa K, Christodoulou K, Sabir A, Islam L, Santra S, Durmusalioglu EA, Atik T, Isik E, Cogulu O, Urquhart JE, Beaman GM, Demain LA, Jackson A, Blakes AJM, Byers HJ, Bennett H, Lin WH, Adamson A, Patel S, Yue WW, Taylor RW, Reunert J, Marquardt T, Buchert R, Haack T, Losch H, Ryba L, Lassuthova P, Valkovičová R, Haberlová J, Lauerová B, Trúsiková E, Polavarapu K, Kilicarslan OA, Lochmüller H, Zamani M, Chamanrou N, Shariati G, Sadeghian S, Azizimalamiri R, Maddirevula S, AlMuhaizea M, Alkuraya FS, Horvath R, Gungor S, Manzur A, Munot P, Matthews R, Banka S, Reilly MM, Bennett D, O'Keefe RT, Newman WG. Harkness JR, et al. Among authors: record cj. Lancet Neurol. 2025 Aug;24(8):667-680. doi: 10.1016/S1474-4422(25)00198-X. Lancet Neurol. 2025. PMID: 40683276 Free article.
190 results