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Centronuclear myopathy (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Centronuclear myopathy" in English language version.

refsWebsite
Global rank English rank
14nih.gov
4th place
4th place
11doi.org
2nd place
2nd place
4worldcat.org
5th place
5th place
2semanticscholar.org
11th place
8th place
2web.archive.org
1st place
1st place
1omim.org
4,380th place
4,305th place
1inserm.fr
9,568th place
low place
1uchicago.edu
230th place
214th place

doi.org

  • Jungbluth, Heinz; Wallgren-Pettersson, Carina; Laporte, Jocelyn (2008-09-25). "Centronuclear (myotubular) myopathy". Orphanet Journal of Rare Diseases. 3 (1): 26. doi:10.1186/1750-1172-3-26. ISSN 1750-1172. PMC 2572588. PMID 18817572.
  • Laporte J, Biancalana V, Tanner S, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel J (2000). "MTM1 mutations in X-linked myotubular myopathy". Hum Mutat. 15 (5): 393–409. doi:10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R. PMID 10790201. S2CID 27091541.
  • Bitoun M, Maugenre S, Jeannet P, Lacène E, Ferrer X, Laforêt P, Martin J, Laporte J, Lochmüller H, Beggs A, Fardeau M, Eymard B, Romero N, Guicheney P (2005). "Mutations in dynamin 2 cause dominant centronuclear myopathy" (PDF). Nat Genet. 37 (11): 1207–1209. doi:10.1038/ng1657. PMID 16227997. S2CID 37842933.
  • Lehesjoki A, Sankila E, Miao J, Somer M, Salonen R, Rapola J, de la Chapelle A (1990). "X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28". J Med Genet. 27 (5): 288–91. doi:10.1136/jmg.27.5.288. PMC 1017077. PMID 1972196.
  • Jungbluth H, Wallgren-Pettersson C, Laporte J (2008). "Centronuclear (myotubular) myopathy". Orphanet J Rare Dis. 3: 26. doi:10.1186/1750-1172-3-26. PMC 2572588. PMID 18817572.
  • SPIRO, ALFRED J. (1966-01-01). "Myotubular Myopathy". Archives of Neurology. 14 (1). American Medical Association (AMA): 1–14. doi:10.1001/archneur.1966.00470070005001. ISSN 0003-9942. PMID 4954227.
  • Bergen, Barry J.; Carry, Michael P.; Wilson, W. Bruce; Barden, Michael T.; Ringel, Steven P. (1980). "Centronuclear myopathy: Extraocular- and limb-muscle findings in an adult". Muscle & Nerve. 3 (2). Wiley: 165–171. doi:10.1002/mus.880030210. ISSN 0148-639X. PMID 6445039.
  • ZANOTELI, EDMAR; OLIVEIRA, ACARY SOUZA BULLE; KIYOMOTO, BEATRIZ HITOMI; SCHMIDT, BENY; GABBAI, ALBERTO ALAIN (1998). "Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset". Arquivos de Neuro-Psiquiatria. 56 (1). FapUNIFESP (SciELO): 01–08. doi:10.1590/s0004-282x1998000100001. ISSN 0004-282X.
  • Spiro A, Shy G, Gonatas N (1966). "Myotubular myopathy. Persistence of fetal muscle in an adolescent boy". Arch Neurol. 14 (1): 1–14. doi:10.1001/archneur.1966.00470070005001. PMID 4954227.
  • Manta P, Mamali I, Zambelis T, Aquaviva T, Kararizou E, Kalfakis N (2006). "Immunocytochemical study of cytoskeletal proteins in centronuclear myopathies". Acta Histochem. 108 (4): 271–6. doi:10.1016/j.acthis.2006.05.004. PMID 16893562.
  • Pierson C, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs A (2005). "X-linked myotubular and centronuclear myopathies". J Neuropathol Exp Neurol. 64 (7): 555–64. doi:10.1097/01.jnen.0000171653.17213.2e. PMID 16042307.

inserm.fr

hal.inserm.fr

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Jungbluth, Heinz; Wallgren-Pettersson, Carina; Laporte, Jocelyn (2008-09-25). "Centronuclear (myotubular) myopathy". Orphanet Journal of Rare Diseases. 3 (1): 26. doi:10.1186/1750-1172-3-26. ISSN 1750-1172. PMC 2572588. PMID 18817572.
  • Laporte J, Biancalana V, Tanner S, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel J (2000). "MTM1 mutations in X-linked myotubular myopathy". Hum Mutat. 15 (5): 393–409. doi:10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R. PMID 10790201. S2CID 27091541.
  • Bitoun M, Maugenre S, Jeannet P, Lacène E, Ferrer X, Laforêt P, Martin J, Laporte J, Lochmüller H, Beggs A, Fardeau M, Eymard B, Romero N, Guicheney P (2005). "Mutations in dynamin 2 cause dominant centronuclear myopathy" (PDF). Nat Genet. 37 (11): 1207–1209. doi:10.1038/ng1657. PMID 16227997. S2CID 37842933.
  • Lehesjoki A, Sankila E, Miao J, Somer M, Salonen R, Rapola J, de la Chapelle A (1990). "X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28". J Med Genet. 27 (5): 288–91. doi:10.1136/jmg.27.5.288. PMC 1017077. PMID 1972196.
  • Jungbluth H, Wallgren-Pettersson C, Laporte J (2008). "Centronuclear (myotubular) myopathy". Orphanet J Rare Dis. 3: 26. doi:10.1186/1750-1172-3-26. PMC 2572588. PMID 18817572.
  • SPIRO, ALFRED J. (1966-01-01). "Myotubular Myopathy". Archives of Neurology. 14 (1). American Medical Association (AMA): 1–14. doi:10.1001/archneur.1966.00470070005001. ISSN 0003-9942. PMID 4954227.
  • Bergen, Barry J.; Carry, Michael P.; Wilson, W. Bruce; Barden, Michael T.; Ringel, Steven P. (1980). "Centronuclear myopathy: Extraocular- and limb-muscle findings in an adult". Muscle & Nerve. 3 (2). Wiley: 165–171. doi:10.1002/mus.880030210. ISSN 0148-639X. PMID 6445039.
  • Spiro A, Shy G, Gonatas N (1966). "Myotubular myopathy. Persistence of fetal muscle in an adolescent boy". Arch Neurol. 14 (1): 1–14. doi:10.1001/archneur.1966.00470070005001. PMID 4954227.
  • Manta P, Mamali I, Zambelis T, Aquaviva T, Kararizou E, Kalfakis N (2006). "Immunocytochemical study of cytoskeletal proteins in centronuclear myopathies". Acta Histochem. 108 (4): 271–6. doi:10.1016/j.acthis.2006.05.004. PMID 16893562.
  • Pierson C, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs A (2005). "X-linked myotubular and centronuclear myopathies". J Neuropathol Exp Neurol. 64 (7): 555–64. doi:10.1097/01.jnen.0000171653.17213.2e. PMID 16042307.

ncbi.nlm.nih.gov

  • Jungbluth, Heinz; Wallgren-Pettersson, Carina; Laporte, Jocelyn (2008-09-25). "Centronuclear (myotubular) myopathy". Orphanet Journal of Rare Diseases. 3 (1): 26. doi:10.1186/1750-1172-3-26. ISSN 1750-1172. PMC 2572588. PMID 18817572.
  • Lehesjoki A, Sankila E, Miao J, Somer M, Salonen R, Rapola J, de la Chapelle A (1990). "X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28". J Med Genet. 27 (5): 288–91. doi:10.1136/jmg.27.5.288. PMC 1017077. PMID 1972196.
  • Jungbluth H, Wallgren-Pettersson C, Laporte J (2008). "Centronuclear (myotubular) myopathy". Orphanet J Rare Dis. 3: 26. doi:10.1186/1750-1172-3-26. PMC 2572588. PMID 18817572.
  • Myotubular Myopathy, Autosomal Dominant Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD.

omim.org

semanticscholar.org

api.semanticscholar.org

uchicago.edu

genes.uchicago.edu

web.archive.org

worldcat.org

search.worldcat.org

  • Jungbluth, Heinz; Wallgren-Pettersson, Carina; Laporte, Jocelyn (2008-09-25). "Centronuclear (myotubular) myopathy". Orphanet Journal of Rare Diseases. 3 (1): 26. doi:10.1186/1750-1172-3-26. ISSN 1750-1172. PMC 2572588. PMID 18817572.
  • SPIRO, ALFRED J. (1966-01-01). "Myotubular Myopathy". Archives of Neurology. 14 (1). American Medical Association (AMA): 1–14. doi:10.1001/archneur.1966.00470070005001. ISSN 0003-9942. PMID 4954227.
  • Bergen, Barry J.; Carry, Michael P.; Wilson, W. Bruce; Barden, Michael T.; Ringel, Steven P. (1980). "Centronuclear myopathy: Extraocular- and limb-muscle findings in an adult". Muscle & Nerve. 3 (2). Wiley: 165–171. doi:10.1002/mus.880030210. ISSN 0148-639X. PMID 6445039.
  • ZANOTELI, EDMAR; OLIVEIRA, ACARY SOUZA BULLE; KIYOMOTO, BEATRIZ HITOMI; SCHMIDT, BENY; GABBAI, ALBERTO ALAIN (1998). "Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset". Arquivos de Neuro-Psiquiatria. 56 (1). FapUNIFESP (SciELO): 01–08. doi:10.1590/s0004-282x1998000100001. ISSN 0004-282X.