Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
2015 2
2017 1
2018 1
2019 1
2020 3
2021 3
2022 1
Text availability
Article attribute
Article type
Publication date

Search Results

11 results
Results by year
Filters applied: . Clear all
Page 1
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Mohassel P, et al. Among authors: konersman cg. Nat Med. 2021 Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31. Nat Med. 2021. PMID: 34059824
Making sense of missense variants in TTN-related congenital myopathies.
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Among authors: konersman c. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.
Medical management of muscle weakness in Duchenne muscular dystrophy.
Rivera SR, Jhamb SK, Abdel-Hamid HZ, Acsadi G, Brandsema J, Ciafaloni E, Darras BT, Iannaccone ST, Konersman CG, Kuntz NL, McDonald CM, Parsons JA, Tesi Rocha C, Zaidman CM, Butterfield RJ, Connolly AM, Mathews KD. Rivera SR, et al. Among authors: konersman cg. PLoS One. 2020 Oct 19;15(10):e0240687. doi: 10.1371/journal.pone.0240687. eCollection 2020. PLoS One. 2020. PMID: 33075081 Free PMC article.
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G.
Lee AJ, Jones KA, Butterfield RJ, Cox MO, Konersman CG, Grosmann C, Abdenur JE, Boyer M, Beson B, Wang C, Dowling JJ, Gibbons MA, Ballard A, Janas JS, Leshner RT, Donkervoort S, Bönnemann CG, Malicki DM, Weiss RB, Moore SA, Mathews KD. Lee AJ, et al. Among authors: konersman cg. Neurol Genet. 2019 Mar 1;5(2):e315. doi: 10.1212/NXG.0000000000000315. eCollection 2019 Apr. Neurol Genet. 2019. PMID: 31041397 Free PMC article.
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.
Pellerin D, Aykanat A, Ellezam B, Troiano EC, Karamchandani J, Dicaire MJ, Petitclerc M, Robertson R, Allard-Chamard X, Brunet D, Konersman CG, Mathieu J, Warman Chardon J, Gupta VA, Beggs AH, Brais B, Chrestian N. Pellerin D, et al. Among authors: konersman cg. Ann Neurol. 2020 Apr;87(4):568-583. doi: 10.1002/ana.25685. Epub 2020 Feb 8. Ann Neurol. 2020. PMID: 31970803 Free PMC article.
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB. Konersman CG, et al. Mol Genet Genomic Med. 2017 Nov;5(6):678-691. doi: 10.1002/mgg3.325. Epub 2017 Aug 21. Mol Genet Genomic Med. 2017. PMID: 29178646 Free PMC article.
BAG3 myofibrillar myopathy presenting with cardiomyopathy.
Konersman CG, Bordini BJ, Scharer G, Lawlor MW, Zangwill S, Southern JF, Amos L, Geddes GC, Kliegman R, Collins MP. Konersman CG, et al. Neuromuscul Disord. 2015 May;25(5):418-22. doi: 10.1016/j.nmd.2015.01.009. Epub 2015 Feb 4. Neuromuscul Disord. 2015. PMID: 25728519
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.
Mohassel P, Chang N, Inoue K, Delaney A, Hu Y, Donkervoort S, Saade D, Billioux BJ, Meader B, Volochayev R, Konersman CG, Kaindl AM, Cho CH, Russell B, Rodriguez A, Foster KW, Foley AR, Moore SA, Jones PL, Bonnemann CG, Jones T, Shaw ND. Mohassel P, et al. Among authors: konersman cg. Neurology. 2022 Mar 29;98(13):e1384-e1396. doi: 10.1212/WNL.0000000000200032. Epub 2022 Feb 4. Neurology. 2022. PMID: 35121673
11 results