Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

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
1994 1
1995 1
2009 1
2010 1
2012 1
2013 1
2015 1
2017 3
2018 3
2019 2
2020 5
2021 4
2022 3
2023 0
Text availability
Article attribute
Article type
Publication date

Search Results

23 results
Results by year
Filters applied: . Clear all
Page 1
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: fernandez garcia ma. 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.
New treatments in spinal muscular atrophy.
Gowda VL, Fernandez-Garcia MA, Jungbluth H, Wraige E. Gowda VL, et al. Among authors: fernandez garcia ma. Arch Dis Child. 2022 Oct 31:archdischild-2021-323605. doi: 10.1136/archdischild-2021-323605. Online ahead of print. Arch Dis Child. 2022. PMID: 36316089 Review.
Genetic neuropathies presenting with CIDP-like features in childhood.
Fernandez-Garcia MA, Stettner GM, Kinali M, Clarke A, Fallon P, Knirsch U, Wraige E, Jungbluth H. Fernandez-Garcia MA, et al. Neuromuscul Disord. 2021 Feb;31(2):113-122. doi: 10.1016/j.nmd.2020.11.013. Epub 2020 Nov 30. Neuromuscul Disord. 2021. PMID: 33386210 Review.
COVID-19 in children with neuromuscular disorders.
Natera-de Benito D, Aguilera-Albesa S, Costa-Comellas L, García-Romero M, Miranda-Herrero MC, Rúbies Olives J, García-Campos Ó, Martínez Del Val E, Martinez Garcia MJ, Medina Martínez I, Cancho-Candela R, Fernandez-Garcia MA, Pascual-Pascual SI, Gómez-Andrés D, Nascimento A; Neuromuscular Working Group of Spanish Pediatric Neurology Society. Natera-de Benito D, et al. Among authors: fernandez garcia ma. J Neurol. 2021 Sep;268(9):3081-3085. doi: 10.1007/s00415-020-10339-y. Epub 2021 Jan 2. J Neurol. 2021. PMID: 33387010 Free PMC article.
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.
van den Bersselaar LR, Jungbluth H, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Malagon I, van Eijk LT, van Alfen N, van Engelen BGM, Scheffer GJ, Snoeck MMJ, Voermans NC. van den Bersselaar LR, et al. Among authors: fernandez garcia ma. Brain Commun. 2022 Nov 10;4(6):fcac292. doi: 10.1093/braincomms/fcac292. eCollection 2022. Brain Commun. 2022. PMID: 36751502 Free PMC article.
Mitochondrial Disease in Children: The Nephrologist's Perspective.
Pérez-Albert P, de Lucas Collantes C, Fernández-García MÁ, de Rojas T, Aparicio López C, Gutiérrez-Solana L. Pérez-Albert P, et al. Among authors: fernandez garcia ma. JIMD Rep. 2018;42:61-70. doi: 10.1007/8904_2017_78. Epub 2017 Dec 17. JIMD Rep. 2018. PMID: 29249003 Free PMC article.
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Servián-Morilla E, Cabrera-Serrano M, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernández-García MA, Nieto-González JL, Laing NG, Paradas C. Servián-Morilla E, et al. Among authors: fernandez garcia ma. Acta Neuropathol Commun. 2019 Mar 1;7(1):30. doi: 10.1186/s40478-019-0683-9. Acta Neuropathol Commun. 2019. PMID: 30823891 Free PMC article.
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. Among authors: fernandez garcia ma. Brain. 2021 Mar 3;144(2):584-600. doi: 10.1093/brain/awaa420. Brain. 2021. PMID: 33559681 Free PMC article.
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Lok A, Fernandez-Garcia MA, Taylor RW, French C, MacFarland R, Bodi I, Champion M, Josifova D, Raymond FL, Iuso A, Jungbluth H, Milan A, Singh RR. Lok A, et al. Among authors: fernandez garcia ma. Am J Med Genet A. 2022 Sep;188(9):2783-2789. doi: 10.1002/ajmg.a.62848. Epub 2022 May 26. Am J Med Genet A. 2022. PMID: 35616428
[Norovirus: One more guest in residential homes for the elderly?].
Molina Rueda MJ, Onieva García MÁ, Fernández García MÁ, Almagro Nievas D, Guijosa Campos P. Molina Rueda MJ, et al. Among authors: fernandez garcia ma. Rev Esp Geriatr Gerontol. 2019 Jan-Feb;54(1):53-54. doi: 10.1016/j.regg.2018.08.002. Epub 2018 Nov 2. Rev Esp Geriatr Gerontol. 2019. PMID: 30396787 Spanish. No abstract available.
23 results