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

Year Number of Results
1993 1
2004 1
2009 1
2013 3
2015 2
2016 3
2017 7
2018 5
2019 6
2020 4
2021 5
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34 results
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Page 1
Anti-HMGCR Myopathy.
Mohassel P, Mammen AL. Mohassel P, et al. J Neuromuscul Dis. 2018;5(1):11-20. doi: 10.3233/JND-170282. J Neuromuscul Dis. 2018. PMID: 29480216 Free PMC article. Review.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: mohassel p. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bönnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK. Berko ER, et al. Among authors: mohassel p. J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7. J Med Genet. 2017. PMID: 27389779 Free PMC article.
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. Donkervoort S, et al. Among authors: mohassel p. Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29. Acta Neuropathol. 2019. PMID: 31463572 Free PMC article.
Neurophysiology simplified for imagers.
Mohassel P, Chaudhry V. Mohassel P, et al. Semin Musculoskelet Radiol. 2015 Apr;19(2):112-20. doi: 10.1055/s-0035-1545075. Epub 2015 Mar 12. Semin Musculoskelet Radiol. 2015. PMID: 25764235 Review.
Hypoglycemia in patients with congenital muscle disease.
Hayes LH, Yun P, Mohassel P, Norato G, Donkervoort S, Leach ME, Alvarez R, Rutkowski A, Shaw ND, Foley AR, Bönnemann CG. Hayes LH, et al. Among authors: mohassel p. BMC Pediatr. 2020 Feb 6;20(1):57. doi: 10.1186/s12887-020-1909-5. BMC Pediatr. 2020. PMID: 32028919 Free PMC article.
The spectrum of statin myopathy.
Mohassel P, Mammen AL. Mohassel P, et al. Curr Opin Rheumatol. 2013 Nov;25(6):747-52. doi: 10.1097/01.bor.0000434673.85515.89. Curr Opin Rheumatol. 2013. PMID: 24061077 Review.
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