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Page 1
Increased frequency of repeat expansion mutations across different populations.
Ibañez K, Jadhav B, Zanovello M, Gagliardi D, Clarkson C, Facchini S, Garg P, Martin-Trujillo A, Gies SJ, Galassi Deforie V, Dalmia A, Hensman Moss DJ, Vandrovcova J, Rocca C, Moutsianas L, Marini-Bettolo C, Walker H, Turner C, Shoai M, Long JD, Fratta P, Langbehn DR, Tabrizi SJ, Caulfield MJ, Cortese A, Escott-Price V, Hardy J, Houlden H, Sharp AJ, Tucci A. Ibañez K, et al. Among authors: marini bettolo c. Nat Med. 2024 Nov;30(11):3357-3368. doi: 10.1038/s41591-024-03190-5. Epub 2024 Oct 1. Nat Med. 2024. PMID: 39354197 Free PMC article.
Case report of adult-onset Allgrove syndrome.
Gilio F, Di Rezze S, Conte A, Frasca V, Iacovelli E, Marini Bettolo C, Gabriele M, Giacomelli E, Pizzuti A, Pirro C, Fattapposta F, Habib FI, Prencipe M, Inghilleri M. Gilio F, et al. Neurol Sci. 2007 Dec;28(6):331-5. doi: 10.1007/s10072-007-0848-3. Epub 2008 Jan 4. Neurol Sci. 2007. PMID: 18175081
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, Barresi R, Basiri K, Cortese A, Elgar G, Fernandez-Garcia MA, Yip J, Foley AR, Gutowski N, Jungbluth H, Lassche S, Lavin T, Marcelis C, Marks P, Marini-Bettolo C, Medne L, Moslemi AR, Sarkozy A, Reilly MM, Muntoni F, Millan F, Muraresku CC, Need AC, Nemeth AH, Neuhaus SB, Norwood F, O'Donnell M, O'Driscoll M, Rankin J, Yum SW, Zolkipli-Cunningham Z, Brusius I, Wunderlich G; Genomics England Research Consortium; Karakaya M, Wirth B, Fakhro KA, Tajsharghi H, Bönnemann CG, Taylor JC, Houlden H. Pagnamenta AT, et al. Brain. 2021 Mar 3;144(2):584-600. doi: 10.1093/brain/awaa420. Brain. 2021. PMID: 33559681 Free PMC article.
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.
Wood L, Cordts I, Atalaia A, Marini-Bettolo C, Maddison P, Phillips M, Roberts M, Rogers M, Hammans S, Straub V, Petty R, Orrell R, Monckton DG, Nikolenko N, Jimenez-Moreno AC, Thompson R, Hilton-Jones D, Turner C, Lochmüller H. Wood L, et al. J Neurol. 2017 May;264(5):979-988. doi: 10.1007/s00415-017-8483-2. Epub 2017 Apr 10. J Neurol. 2017. PMID: 28397002 Free PMC article.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: marini bettolo c. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.
Stimpson G, Ramsey D, Wolfe A, Mayhew A, Scoto M, Baranello G, Muni Lofra R, Main M, Milev E, Coratti G, Pane M, Sansone V, D'Amico A, Bertini E, Messina S, Bruno C, Albamonte E, Mazzone ES, Montes J, Glanzman AM, Zolkipli-Cunningham Z, Pasternak A, Duong T, Dunaway Young S, Civitello M, Marini-Bettolo C, Day JW, Darras BT, De Vivo DC, Finkel RS, Mercuri E, Muntoni F; International SMA Consortium (iSMAc). Stimpson G, et al. J Clin Med. 2023 Feb 28;12(5):1920. doi: 10.3390/jcm12051920. J Clin Med. 2023. PMID: 36902710 Free PMC article.
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. Brain. 2024 Feb 1;147(2):414-426. doi: 10.1093/brain/awad312. Brain. 2024. PMID: 37703328 Free PMC article.
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories.
Muni-Lofra R, Juanola-Mayos E, Schiava M, Moat D, Elseed M, Michel-Sodhi J, Harris E, McCallum M, Moore U, Richardson M, Trainor C, Wong K, Malinova M, Bolano-Diaz C, Keogh MJ, Ghimenton E, Verdu-Diaz J, Mayhew A, Guglieri M, Straub V, James MK, Marini-Bettolo C, Diaz-Manera J. Muni-Lofra R, et al. Neurol Genet. 2023 Jul 10;9(4):e200084. doi: 10.1212/NXG.0000000000200084. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37440793 Free PMC article.
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.
Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez J, Cairns A, Harris E, Marini-Bettolo C, Hundallah K, Alhashem AM, Al-Owain M, Maroofian R, Ravenscroft G, Straub V. Johari M, et al. Among authors: marini bettolo c. J Med Genet. 2024 Sep 24;61(10):992-998. doi: 10.1136/jmg-2024-109970. J Med Genet. 2024. PMID: 39209426 Free PMC article.
Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies.
James MK, Alfano LN, Muni-Lofra R, Reash NF, Sodhi J, Iammarino MA, Moat D, Shannon K, McCallum M, Richardson M, Eagle M, Straub V, Marini-Bettolo C, Lowes LP, Mayhew AG. James MK, et al. Phys Ther. 2022 Oct 6;102(10):pzac113. doi: 10.1093/ptj/pzac113. Phys Ther. 2022. PMID: 35932452 Free PMC article.
63 results