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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

104 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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. Retraction in: Cell. 2010 Sep 17;142(6):984. doi: 10.1016/j.cell.2010.08.034 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
No cardiomyopathy in X-linked myopathy with excessive autophagy.
Saraste A, Koskenvuo JW, Airaksinen J, Ramachandran N, Munteanu I, Udd B, Huovinen S, Kalimo H, Minassian BA. Saraste A, et al. Among authors: munteanu i. Neuromuscul Disord. 2015 Jun;25(6):485-7. doi: 10.1016/j.nmd.2015.03.003. Epub 2015 Mar 17. Neuromuscul Disord. 2015. PMID: 25845477
Fine-mapping the gene for X-linked myopathy with excessive autophagy.
Munteanu I, Ramachandran N, Mnatzakanian GN, Villanova M, Fardeau M, Levy N, Kissel JT, Minassian BA. Munteanu I, et al. Neurology. 2008 Sep 16;71(12):951-3. doi: 10.1212/01.wnl.0000325991.01899.35. Neurology. 2008. PMID: 18794500 No abstract available.
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
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
104 results