先天性筋ジストロフィー (Japanese Wikipedia)

Analysis of information sources in references of the Wikipedia article "先天性筋ジストロフィー" in Japanese language version.

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aan.com

“Congenital muscular dystrophy”. Guidelines American Academy of Neurology. (2015) 28 April 2016閲覧。.

doi.org

Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania (2011-12-01). “Congenital Muscular Dystrophies: A Brief Review”. Seminars in Pediatric Neurology 18 (4): 277–288. doi:10.1016/j.spen.2011.10.010. ISSN 1071-9091. PMC 3332154. PMID 22172424.
Zambon, Alberto A.; Muntoni, Francesco (2021-10-01). “Congenital muscular dystrophies: What is new?” (English). Neuromuscular Disorders 31 (10): 931–942. doi:10.1016/j.nmd.2021.07.009. ISSN 0960-8966. PMID 34470717.
Kirschner, Janbernd (2013-01-01), Dulac, Olivier; Lassonde, Maryse; Sarnat, Harvey B., eds., “Chapter 143 - Congenital muscular dystrophies” (英語), Handbook of Clinical Neurology, Pediatric Neurology Part III (Elsevier) 113: 1377–1385, doi:10.1016/b978-0-444-59565-2.00008-3, ISBN 9780444595652, PMID 23622361 2022年5月11日閲覧。
Jimenez-Mallebrera, C.; Brown, S. C.; Sewry, C. A.; Muntoni, F. (2005-04-01). “Congenital muscular dystrophy: molecular and cellular aspects” (英語). Cellular and Molecular Life Sciences 62 (7): 809–823. doi:10.1007/s00018-004-4510-4. ISSN 1420-9071. PMID 15868406.
Bönnemann, Carsten G. (July 2011). “The collagen VI-related myopathies: muscle meets its matrix” (英語). Nature Reviews Neurology 7 (7): 379–390. doi:10.1038/nrneurol.2011.81. ISSN 1759-4766. PMC 5210181. PMID 21691338.
Fu, Xiao-Na; Xiong, Hui (2017-11-05). “Genetic and Clinical Advances of Congenital Muscular Dystrophy” (英語). Chinese Medical Journal 130 (21): 2624–2631. doi:10.4103/0366-6999.217091. ISSN 0366-6999. PMC 5678264. PMID 29067961.
Martin, Paul T (2006). “Mechanisms of Disease: congenital muscular dystrophies—glycosylation takes center stage”. Nature Clinical Practice Neurology 2 (4): 222–230. doi:10.1038/ncpneuro0155. ISSN 1745-834X. PMC 2855642. PMID 16932553.
Bönnemann, Carsten G.; Wang, Ching H.; Quijano-Roy, Susana; Deconinck, Nicolas; Bertini, Enrico; Ferreiro, Ana; Muntoni, Francesco; Sewry, Caroline et al. (1 April 2014). “Diagnostic approach to the congenital muscular dystrophies”. Neuromuscular Disorders 24 (4): 289–311. doi:10.1016/j.nmd.2013.12.011. PMC 5258110. PMID 24581957.

medscape.com

emedicine.medscape.com

“Congenital Muscular Dystrophy Workup: Laboratory Studies, Imaging Studies, Other Tests”. emedicine.medscape.com. 2016年4月28日閲覧。

nih.gov

pubmed.ncbi.nlm.nih.gov

Sparks, Susan; Quijano-Roy, Susana; Harper, Amy; Rutkowski, Anne; Gordon, Erynn; Hoffman, Eric P.; Pegoraro, Elena (1993-01-01). “Congenital Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY”. In Pagon, Roberta A.. Congenital Muscular Dystrophy Overview. Seattle (WA): University of Washington, Seattle. PMID 20301468 update 2012
Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania (2011-12-01). “Congenital Muscular Dystrophies: A Brief Review”. Seminars in Pediatric Neurology 18 (4): 277–288. doi:10.1016/j.spen.2011.10.010. ISSN 1071-9091. PMC 3332154. PMID 22172424.
Astrea, Guja; Battini, Roberta; Lenzi, Sara; Frosini, Silvia; Bonetti, Silvia; Moretti, Elena; Perazza, Silvia; Santorelli, Filippo M. et al. (October 2016). “Learning disabilities in neuromuscular disorders: a springboard for adult life”. Acta Myologica 35 (2): 90–95. ISSN 1128-2460. PMC 5343745. PMID 28344438.
Zambon, Alberto A.; Muntoni, Francesco (2021-10-01). “Congenital muscular dystrophies: What is new?” (English). Neuromuscular Disorders 31 (10): 931–942. doi:10.1016/j.nmd.2021.07.009. ISSN 0960-8966. PMID 34470717.
Kirschner, Janbernd (2013-01-01), Dulac, Olivier; Lassonde, Maryse; Sarnat, Harvey B., eds., “Chapter 143 - Congenital muscular dystrophies” (英語), Handbook of Clinical Neurology, Pediatric Neurology Part III (Elsevier) 113: 1377–1385, doi:10.1016/b978-0-444-59565-2.00008-3, ISBN 9780444595652, PMID 23622361 2022年5月11日閲覧。
Adam, MP; Mirzaa, GM; Pagon, RA; Wallace, SE; Bean, LJH; Gripp, KW; Amemiya, A; Oliveira, J et al. (1993). LAMA2 Muscular Dystrophy.. PMID 22675738.
Adam, MP; Mirzaa, GM; Pagon, RA; Wallace, SE; Bean, LJH; Gripp, KW; Amemiya, A; Foley, AR et al. (1993). Collagen VI-Related Dystrophies.. PMID 20301676.
Jimenez-Mallebrera, C.; Brown, S. C.; Sewry, C. A.; Muntoni, F. (2005-04-01). “Congenital muscular dystrophy: molecular and cellular aspects” (英語). Cellular and Molecular Life Sciences 62 (7): 809–823. doi:10.1007/s00018-004-4510-4. ISSN 1420-9071. PMID 15868406.
Bönnemann, Carsten G. (July 2011). “The collagen VI-related myopathies: muscle meets its matrix” (英語). Nature Reviews Neurology 7 (7): 379–390. doi:10.1038/nrneurol.2011.81. ISSN 1759-4766. PMC 5210181. PMID 21691338.
Fu, Xiao-Na; Xiong, Hui (2017-11-05). “Genetic and Clinical Advances of Congenital Muscular Dystrophy” (英語). Chinese Medical Journal 130 (21): 2624–2631. doi:10.4103/0366-6999.217091. ISSN 0366-6999. PMC 5678264. PMID 29067961.
Martin, Paul T (2006). “Mechanisms of Disease: congenital muscular dystrophies—glycosylation takes center stage”. Nature Clinical Practice Neurology 2 (4): 222–230. doi:10.1038/ncpneuro0155. ISSN 1745-834X. PMC 2855642. PMID 16932553.
Bönnemann, Carsten G.; Wang, Ching H.; Quijano-Roy, Susana; Deconinck, Nicolas; Bertini, Enrico; Ferreiro, Ana; Muntoni, Francesco; Sewry, Caroline et al. (1 April 2014). “Diagnostic approach to the congenital muscular dystrophies”. Neuromuscular Disorders 24 (4): 289–311. doi:10.1016/j.nmd.2013.12.011. PMC 5258110. PMID 24581957.

ncbi.nlm.nih.gov

Sparks, Susan; Quijano-Roy, Susana; Harper, Amy; Rutkowski, Anne; Gordon, Erynn; Hoffman, Eric P.; Pegoraro, Elena (1993-01-01). “Congenital Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY”. In Pagon, Roberta A.. Congenital Muscular Dystrophy Overview. Seattle (WA): University of Washington, Seattle. PMID 20301468 update 2012
Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania (2011-12-01). “Congenital Muscular Dystrophies: A Brief Review”. Seminars in Pediatric Neurology 18 (4): 277–288. doi:10.1016/j.spen.2011.10.010. ISSN 1071-9091. PMC 3332154. PMID 22172424.
Astrea, Guja; Battini, Roberta; Lenzi, Sara; Frosini, Silvia; Bonetti, Silvia; Moretti, Elena; Perazza, Silvia; Santorelli, Filippo M. et al. (October 2016). “Learning disabilities in neuromuscular disorders: a springboard for adult life”. Acta Myologica 35 (2): 90–95. ISSN 1128-2460. PMC 5343745. PMID 28344438.
“Fukuyama Congenital Muscular Dystrophy”. GeneReviews®. University of Washington, Seattle (1993年). 2024年3月9日閲覧。
Bönnemann, Carsten G. (July 2011). “The collagen VI-related myopathies: muscle meets its matrix” (英語). Nature Reviews Neurology 7 (7): 379–390. doi:10.1038/nrneurol.2011.81. ISSN 1759-4766. PMC 5210181. PMID 21691338.
Fu, Xiao-Na; Xiong, Hui (2017-11-05). “Genetic and Clinical Advances of Congenital Muscular Dystrophy” (英語). Chinese Medical Journal 130 (21): 2624–2631. doi:10.4103/0366-6999.217091. ISSN 0366-6999. PMC 5678264. PMID 29067961.
Martin, Paul T (2006). “Mechanisms of Disease: congenital muscular dystrophies—glycosylation takes center stage”. Nature Clinical Practice Neurology 2 (4): 222–230. doi:10.1038/ncpneuro0155. ISSN 1745-834X. PMC 2855642. PMID 16932553.
Bönnemann, Carsten G.; Wang, Ching H.; Quijano-Roy, Susana; Deconinck, Nicolas; Bertini, Enrico; Ferreiro, Ana; Muntoni, Francesco; Sewry, Caroline et al. (1 April 2014). “Diagnostic approach to the congenital muscular dystrophies”. Neuromuscular Disorders 24 (4): 289–311. doi:10.1016/j.nmd.2013.12.011. PMC 5258110. PMID 24581957.

pmc.ncbi.nlm.nih.gov

Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania (2011-12-01). “Congenital Muscular Dystrophies: A Brief Review”. Seminars in Pediatric Neurology 18 (4): 277–288. doi:10.1016/j.spen.2011.10.010. ISSN 1071-9091. PMC 3332154. PMID 22172424.
Astrea, Guja; Battini, Roberta; Lenzi, Sara; Frosini, Silvia; Bonetti, Silvia; Moretti, Elena; Perazza, Silvia; Santorelli, Filippo M. et al. (October 2016). “Learning disabilities in neuromuscular disorders: a springboard for adult life”. Acta Myologica 35 (2): 90–95. ISSN 1128-2460. PMC 5343745. PMID 28344438.
Bönnemann, Carsten G. (July 2011). “The collagen VI-related myopathies: muscle meets its matrix” (英語). Nature Reviews Neurology 7 (7): 379–390. doi:10.1038/nrneurol.2011.81. ISSN 1759-4766. PMC 5210181. PMID 21691338.
Fu, Xiao-Na; Xiong, Hui (2017-11-05). “Genetic and Clinical Advances of Congenital Muscular Dystrophy” (英語). Chinese Medical Journal 130 (21): 2624–2631. doi:10.4103/0366-6999.217091. ISSN 0366-6999. PMC 5678264. PMID 29067961.
Martin, Paul T (2006). “Mechanisms of Disease: congenital muscular dystrophies—glycosylation takes center stage”. Nature Clinical Practice Neurology 2 (4): 222–230. doi:10.1038/ncpneuro0155. ISSN 1745-834X. PMC 2855642. PMID 16932553.
Bönnemann, Carsten G.; Wang, Ching H.; Quijano-Roy, Susana; Deconinck, Nicolas; Bertini, Enrico; Ferreiro, Ana; Muntoni, Francesco; Sewry, Caroline et al. (1 April 2014). “Diagnostic approach to the congenital muscular dystrophies”. Neuromuscular Disorders 24 (4): 289–311. doi:10.1016/j.nmd.2013.12.011. PMC 5258110. PMID 24581957.

nlm.nih.gov

“Hypotonia: MedlinePlus Medical Encyclopedia”. www.nlm.nih.gov. 2016年4月28日閲覧。

nmd-journal.com

Zambon, Alberto A.; Muntoni, Francesco (2021-10-01). “Congenital muscular dystrophies: What is new?” (English). Neuromuscular Disorders 31 (10): 931–942. doi:10.1016/j.nmd.2021.07.009. ISSN 0960-8966. PMID 34470717.

sciencedirect.com

Kirschner, Janbernd (2013-01-01), Dulac, Olivier; Lassonde, Maryse; Sarnat, Harvey B., eds., “Chapter 143 - Congenital muscular dystrophies” (英語), Handbook of Clinical Neurology, Pediatric Neurology Part III (Elsevier) 113: 1377–1385, doi:10.1016/b978-0-444-59565-2.00008-3, ISBN 9780444595652, PMID 23622361 2022年5月11日閲覧。

worldcat.org

search.worldcat.org

Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania (2011-12-01). “Congenital Muscular Dystrophies: A Brief Review”. Seminars in Pediatric Neurology 18 (4): 277–288. doi:10.1016/j.spen.2011.10.010. ISSN 1071-9091. PMC 3332154. PMID 22172424.
Astrea, Guja; Battini, Roberta; Lenzi, Sara; Frosini, Silvia; Bonetti, Silvia; Moretti, Elena; Perazza, Silvia; Santorelli, Filippo M. et al. (October 2016). “Learning disabilities in neuromuscular disorders: a springboard for adult life”. Acta Myologica 35 (2): 90–95. ISSN 1128-2460. PMC 5343745. PMID 28344438.
Zambon, Alberto A.; Muntoni, Francesco (2021-10-01). “Congenital muscular dystrophies: What is new?” (English). Neuromuscular Disorders 31 (10): 931–942. doi:10.1016/j.nmd.2021.07.009. ISSN 0960-8966. PMID 34470717.
Jimenez-Mallebrera, C.; Brown, S. C.; Sewry, C. A.; Muntoni, F. (2005-04-01). “Congenital muscular dystrophy: molecular and cellular aspects” (英語). Cellular and Molecular Life Sciences 62 (7): 809–823. doi:10.1007/s00018-004-4510-4. ISSN 1420-9071. PMID 15868406.
Bönnemann, Carsten G. (July 2011). “The collagen VI-related myopathies: muscle meets its matrix” (英語). Nature Reviews Neurology 7 (7): 379–390. doi:10.1038/nrneurol.2011.81. ISSN 1759-4766. PMC 5210181. PMID 21691338.
Fu, Xiao-Na; Xiong, Hui (2017-11-05). “Genetic and Clinical Advances of Congenital Muscular Dystrophy” (英語). Chinese Medical Journal 130 (21): 2624–2631. doi:10.4103/0366-6999.217091. ISSN 0366-6999. PMC 5678264. PMID 29067961.
Martin, Paul T (2006). “Mechanisms of Disease: congenital muscular dystrophies—glycosylation takes center stage”. Nature Clinical Practice Neurology 2 (4): 222–230. doi:10.1038/ncpneuro0155. ISSN 1745-834X. PMC 2855642. PMID 16932553.