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

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

97 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R; UK10K Consortium; Duchen MR, Muntoni F, Sheridan E. Logan CV, et al. Among authors: munteanu i. Nat Genet. 2014 Feb;46(2):188-93. doi: 10.1038/ng.2851. Epub 2013 Dec 15. Nat Genet. 2014. PMID: 24336167
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.
Zhou H, Rokach O, Feng L, Munteanu I, Mamchaoui K, Wilmshurst JM, Sewry C, Manzur AY, Pillay K, Mouly V, Duchen M, Jungbluth H, Treves S, Muntoni F. Zhou H, et al. Among authors: munteanu i. Hum Mutat. 2013 Jul;34(7):986-96. doi: 10.1002/humu.22326. Epub 2013 Apr 17. Hum Mutat. 2013. PMID: 23553787
Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW. Chan EM, et al. Among authors: munteanu i. Nat Genet. 2003 Oct;35(2):125-7. doi: 10.1038/ng1238. Epub 2003 Sep 7. Nat Genet. 2003. PMID: 12958597
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F. Klein A, et al. Among authors: munteanu i. Hum Mutat. 2012 Jun;33(6):981-8. doi: 10.1002/humu.22056. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22473935
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
Ramachandran N, Munteanu I, Wang P, Aubourg P, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA. Ramachandran N, et al. Among authors: munteanu i. Cell. 2009 Apr 17;137(2):235-46. doi: 10.1016/j.cell.2009.01.054. Cell. 2009. PMID: 19379691 Free article. Retracted.
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
Ramachandran N, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA. Ramachandran N, et al. Among authors: munteanu i. Acta Neuropathol. 2013 Mar;125(3):439-57. doi: 10.1007/s00401-012-1073-6. Epub 2013 Jan 12. Acta Neuropathol. 2013. PMID: 23315026
97 results