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

Year Number of Results
1953 1
1959 1
1961 1
1962 2
1965 3
1967 1
1968 2
1970 2
1971 4
1972 1
1973 1
1974 1
1976 1
1977 3
1978 3
1979 2
1980 1
1984 2
1985 1
1986 2
1987 1
1988 1
1989 3
1990 3
1991 1
1993 2
1999 1
2000 5
2001 3
2002 8
2003 4
2004 6
2005 2
2006 4
2007 6
2008 6
2009 9
2010 13
2011 16
2012 16
2013 18
2014 17
2015 16
2016 22
2017 10
2018 12
2019 12
2020 7
2021 14
2022 26
2023 26
2024 20

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299 results

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Page 1
Muscle cramps and contractures: causes and treatment.
Dijkstra JN, Boon E, Kruijt N, Brusse E, Ramdas S, Jungbluth H, van Engelen BGM, Walters J, Voermans NC. Dijkstra JN, et al. Among authors: jungbluth h. Pract Neurol. 2023 Feb;23(1):23-34. doi: 10.1136/pn-2022-003574. Epub 2022 Dec 15. Pract Neurol. 2023. PMID: 36522175 Review.
New treatments in spinal muscular atrophy.
Gowda VL, Fernandez-Garcia MA, Jungbluth H, Wraige E. Gowda VL, et al. Among authors: jungbluth h. Arch Dis Child. 2023 Jul;108(7):511-517. doi: 10.1136/archdischild-2021-323605. Epub 2022 Oct 31. Arch Dis Child. 2023. PMID: 36316089 Review.
EPG5-Related Disorder.
Dafsari HS, Ebrahimi-Fakhari D, Saffari A, Deneubourg C, Fanto M, Jungbluth H. Dafsari HS, et al. Among authors: jungbluth h. 2022 Oct 13. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2022 Oct 13. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 36228046 Free Books & Documents. Review.
DYNC1H1-Related Disorders.
Möller B, Coppola A, Jungbluth H, Dafsari HS. Möller B, et al. Among authors: jungbluth h. 2024 Mar 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Mar 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 38513047 Free Books & Documents. Review.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fak… See abstract for full author list ➔ Saffari A, et al. Among authors: jungbluth h. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ. Snoeck M, et al. Among authors: jungbluth h. Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11. Eur J Neurol. 2015. PMID: 25960145
Core myopathies.
Jungbluth H, Sewry CA, Muntoni F. Jungbluth H, et al. Semin Pediatr Neurol. 2011 Dec;18(4):239-49. doi: 10.1016/j.spen.2011.10.005. Semin Pediatr Neurol. 2011. PMID: 22172419 Review.
Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial.
Mah JK, Clemens PR, Guglieri M, Smith EC, Finkel RS, Tulinius M, Nevo Y, Ryan MM, Webster R, Castro D, Kuntz NL, McDonald CM, Damsker JM, Schwartz BD, Mengle-Gaw LJ, Jackowski S, Stimpson G, Ridout DA, Ayyar-Gupta V, Baranello G, Manzur AY, Muntoni F, Gordish-Dressman H, Leinonen M, Ward LM, Hoffman EP, Dang UJ; NorthStar UK Network and CINRG DNHS Investigators. Mah JK, et al. JAMA Netw Open. 2022 Jan 4;5(1):e2144178. doi: 10.1001/jamanetworkopen.2021.44178. JAMA Netw Open. 2022. PMID: 35076703 Free PMC article. Clinical Trial.
The mechanism of macroautophagy: The movie.
Reggiori F, Boya P, da Costa D, Elazar Z, Eskelinen EL, Farrés J, Guettler S, Kraft C, Jungbluth H, Martinez A, Morel E, Pless O, Proikas-Cezanne T, Simonsen A. Reggiori F, et al. Among authors: jungbluth h. Autophagy Rep. 2022 Sep 14;1(1):414-417. doi: 10.1080/27694127.2022.2096115. Autophagy Rep. 2022. PMID: 38106995 Free PMC article.
299 results