Ullrich congenital muscular dystrophy (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Ullrich congenital muscular dystrophy" in English language version.

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13nih.gov

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11web.archive.org

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7doi.org

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5worldcat.org

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2medlineplus.gov

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2omim.org

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1orpha.net

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1springer.com

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1medscape.com

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doi.org

Ullrich, O. (December 1930). "Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems". Zeitschrift für die gesamte Neurologie und Psychiatrie (in German). 126 (1): 171–201. doi:10.1007/BF02864097. ISSN 0303-4194.
Bönnemann, Carsten G. (2011). "Chapter 5 - The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy". Handbook of Clinical Neurology. Vol. 101. Elsevier. pp. 81–96. doi:10.1016/B978-0-08-045031-5.00005-0. ISBN 9780080450315. PMC 5207779. PMID 21496625.
Bönnemann, Carsten G. (2011-06-21). "The collagen VI-related myopathies: muscle meets its matrix". Nature Reviews. Neurology. 7 (7): 379–390. doi:10.1038/nrneurol.2011.81. ISSN 1759-4758. PMC 5210181. PMID 21691338.
El-Sobky, Tamer A.; Abdulhady, Hala; Mahmoud, Shady; Amen, John (31 January 2024). "Orthopedic manifestations of congenital muscular dystrophy subtypes in children: Emerging signatures need consolidation: a scoping review". Journal of Musculoskeletal Surgery and Research. 8 11: 11–23. doi:10.25259/JMSR_229_2023.
Bushby, Kate M. D.; Collins, James; Hicks, Debbie (2014). "Collagen type VI myopathies". Progress in Heritable Soft Connective Tissue Diseases. Advances in Experimental Medicine and Biology. Vol. 802. pp. 185–199. doi:10.1007/978-94-007-7893-1_12. ISBN 978-94-007-7892-4. ISSN 0065-2598. PMID 24443028. Archived from the original on 2024-07-05. Retrieved 2024-07-05.
Reed, Umbertina Conti; Ferreira, Lucio Gobbo; Liu, Enna Cristina; Resende, Maria Bernadete Dutra; Carvalho, Mary Souza; Marie, Suely Kazue; Scaff, Milberto (September 2005). "Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity". Arquivos de Neuro-Psiquiatria. 63 (3b): 785–790. doi:10.1590/S0004-282X2005000500013. ISSN 0004-282X. PMID 16258657.
Bernardi, Paolo; Bonaldo, Paolo (May 2013). "Mitochondrial Dysfunction and Defective Autophagy in the Pathogenesis of Collagen VI Muscular Dystrophies". Cold Spring Harbor Perspectives in Biology. 5 (5). a011387. doi:10.1101/cshperspect.a011387. ISSN 1943-0264. PMC 3632061. PMID 23580791.

medlineplus.gov

Reference, Genetics Home. "collagen VI-related myopathy". Genetics Home Reference. Archived from the original on 2016-05-13. Retrieved 2016-05-11.
"Scoliosis: MedlinePlus". www.nlm.nih.gov. Archived from the original on 2016-05-14. Retrieved 2016-05-12.

medscape.com

emedicine.medscape.com

Emad R Noor (July 3, 2019). "Congenital Muscular Dystrophy Treatment & Management: Medical Care, Surgical Care, Consultations". Medscape. Archived from the original on 2020-11-30. Retrieved 2019-09-04.

nih.gov

ncbi.nlm.nih.gov

"Ullrich congenital muscular dystrophy - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 2016-09-15. Retrieved 2016-05-11.
Foley, A. Reghan; Mohassel, Payam; Donkervoort, Sandra; Bolduc, Véronique; Bönnemann, Carsten G. (January 31, 1993). "Collagen VI-Related Dystrophies". In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora JH; Gripp, Karen W.; Mirzaa, Ghayda M.; Amemiya, Anne (eds.). GeneReviews®. University of Washington, Seattle. PMID 20301676. Archived from the original on August 13, 2020. Retrieved November 11, 2012.
Bönnemann, Carsten G. (2011). "Chapter 5 - The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy". Handbook of Clinical Neurology. Vol. 101. Elsevier. pp. 81–96. doi:10.1016/B978-0-08-045031-5.00005-0. ISBN 9780080450315. PMC 5207779. PMID 21496625.
Bönnemann, Carsten G. (2011-06-21). "The collagen VI-related myopathies: muscle meets its matrix". Nature Reviews. Neurology. 7 (7): 379–390. doi:10.1038/nrneurol.2011.81. ISSN 1759-4758. PMC 5210181. PMID 21691338.
"COL6A1 collagen type VI alpha 1 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 2016-08-21. Retrieved 2016-05-11.
Bernardi, Paolo; Bonaldo, Paolo (May 2013). "Mitochondrial Dysfunction and Defective Autophagy in the Pathogenesis of Collagen VI Muscular Dystrophies". Cold Spring Harbor Perspectives in Biology. 5 (5). a011387. doi:10.1101/cshperspect.a011387. ISSN 1943-0264. PMC 3632061. PMID 23580791.

pubmed.ncbi.nlm.nih.gov

Foley, A. Reghan; Mohassel, Payam; Donkervoort, Sandra; Bolduc, Véronique; Bönnemann, Carsten G. (January 31, 1993). "Collagen VI-Related Dystrophies". In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora JH; Gripp, Karen W.; Mirzaa, Ghayda M.; Amemiya, Anne (eds.). GeneReviews®. University of Washington, Seattle. PMID 20301676. Archived from the original on August 13, 2020. Retrieved November 11, 2012.
Bönnemann, Carsten G. (2011). "Chapter 5 - The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy". Handbook of Clinical Neurology. Vol. 101. Elsevier. pp. 81–96. doi:10.1016/B978-0-08-045031-5.00005-0. ISBN 9780080450315. PMC 5207779. PMID 21496625.
Bönnemann, Carsten G. (2011-06-21). "The collagen VI-related myopathies: muscle meets its matrix". Nature Reviews. Neurology. 7 (7): 379–390. doi:10.1038/nrneurol.2011.81. ISSN 1759-4758. PMC 5210181. PMID 21691338.
Bushby, Kate M. D.; Collins, James; Hicks, Debbie (2014). "Collagen type VI myopathies". Progress in Heritable Soft Connective Tissue Diseases. Advances in Experimental Medicine and Biology. Vol. 802. pp. 185–199. doi:10.1007/978-94-007-7893-1_12. ISBN 978-94-007-7892-4. ISSN 0065-2598. PMID 24443028. Archived from the original on 2024-07-05. Retrieved 2024-07-05.
Reed, Umbertina Conti; Ferreira, Lucio Gobbo; Liu, Enna Cristina; Resende, Maria Bernadete Dutra; Carvalho, Mary Souza; Marie, Suely Kazue; Scaff, Milberto (September 2005). "Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity". Arquivos de Neuro-Psiquiatria. 63 (3b): 785–790. doi:10.1590/S0004-282X2005000500013. ISSN 0004-282X. PMID 16258657.
Bernardi, Paolo; Bonaldo, Paolo (May 2013). "Mitochondrial Dysfunction and Defective Autophagy in the Pathogenesis of Collagen VI Muscular Dystrophies". Cold Spring Harbor Perspectives in Biology. 5 (5). a011387. doi:10.1101/cshperspect.a011387. ISSN 1943-0264. PMC 3632061. PMID 23580791.

rarediseases.info.nih.gov

"Ullrich congenital muscular dystrophy | Disease | Treatment | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2016-06-10. Retrieved 2016-05-11.

omim.org

"Phenotypic Series - PS254090 – Ullrich congenital muscular dystrophy". Online Mendelian Inheritance in Man. Archived from the original on 2023-05-01. Retrieved 2023-05-01.
"OMIM Entry - # 254090 - Ullrich Congenital Muscular Dystrophy; UCMD1". omim.org. Archived from the original on 2015-12-24. Retrieved 2016-05-12.

orpha.net

"Orphanet: Congenital muscular dystrophy, Ullrich type". www.orpha.net. Archived from the original on 2016-06-03. Retrieved 2016-05-11.

springer.com

link.springer.com

Ullrich, O. (December 1930). "Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems". Zeitschrift für die gesamte Neurologie und Psychiatrie (in German). 126 (1): 171–201. doi:10.1007/BF02864097. ISSN 0303-4194.

web.archive.org

"Orphanet: Congenital muscular dystrophy, Ullrich type". www.orpha.net. Archived from the original on 2016-06-03. Retrieved 2016-05-11.
Reference, Genetics Home. "collagen VI-related myopathy". Genetics Home Reference. Archived from the original on 2016-05-13. Retrieved 2016-05-11.
"Ullrich congenital muscular dystrophy | Disease | Treatment | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2016-06-10. Retrieved 2016-05-11.
"Phenotypic Series - PS254090 – Ullrich congenital muscular dystrophy". Online Mendelian Inheritance in Man. Archived from the original on 2023-05-01. Retrieved 2023-05-01.
"Ullrich congenital muscular dystrophy - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 2016-09-15. Retrieved 2016-05-11.
Foley, A. Reghan; Mohassel, Payam; Donkervoort, Sandra; Bolduc, Véronique; Bönnemann, Carsten G. (January 31, 1993). "Collagen VI-Related Dystrophies". In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora JH; Gripp, Karen W.; Mirzaa, Ghayda M.; Amemiya, Anne (eds.). GeneReviews®. University of Washington, Seattle. PMID 20301676. Archived from the original on August 13, 2020. Retrieved November 11, 2012.
"COL6A1 collagen type VI alpha 1 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 2016-08-21. Retrieved 2016-05-11.
Bushby, Kate M. D.; Collins, James; Hicks, Debbie (2014). "Collagen type VI myopathies". Progress in Heritable Soft Connective Tissue Diseases. Advances in Experimental Medicine and Biology. Vol. 802. pp. 185–199. doi:10.1007/978-94-007-7893-1_12. ISBN 978-94-007-7892-4. ISSN 0065-2598. PMID 24443028. Archived from the original on 2024-07-05. Retrieved 2024-07-05.
Emad R Noor (July 3, 2019). "Congenital Muscular Dystrophy Treatment & Management: Medical Care, Surgical Care, Consultations". Medscape. Archived from the original on 2020-11-30. Retrieved 2019-09-04.
"Scoliosis: MedlinePlus". www.nlm.nih.gov. Archived from the original on 2016-05-14. Retrieved 2016-05-12.
"OMIM Entry - # 254090 - Ullrich Congenital Muscular Dystrophy; UCMD1". omim.org. Archived from the original on 2015-12-24. Retrieved 2016-05-12.

worldcat.org

search.worldcat.org

Ullrich, O. (December 1930). "Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems". Zeitschrift für die gesamte Neurologie und Psychiatrie (in German). 126 (1): 171–201. doi:10.1007/BF02864097. ISSN 0303-4194.
Bönnemann, Carsten G. (2011-06-21). "The collagen VI-related myopathies: muscle meets its matrix". Nature Reviews. Neurology. 7 (7): 379–390. doi:10.1038/nrneurol.2011.81. ISSN 1759-4758. PMC 5210181. PMID 21691338.
Bushby, Kate M. D.; Collins, James; Hicks, Debbie (2014). "Collagen type VI myopathies". Progress in Heritable Soft Connective Tissue Diseases. Advances in Experimental Medicine and Biology. Vol. 802. pp. 185–199. doi:10.1007/978-94-007-7893-1_12. ISBN 978-94-007-7892-4. ISSN 0065-2598. PMID 24443028. Archived from the original on 2024-07-05. Retrieved 2024-07-05.
Reed, Umbertina Conti; Ferreira, Lucio Gobbo; Liu, Enna Cristina; Resende, Maria Bernadete Dutra; Carvalho, Mary Souza; Marie, Suely Kazue; Scaff, Milberto (September 2005). "Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity". Arquivos de Neuro-Psiquiatria. 63 (3b): 785–790. doi:10.1590/S0004-282X2005000500013. ISSN 0004-282X. PMID 16258657.
Bernardi, Paolo; Bonaldo, Paolo (May 2013). "Mitochondrial Dysfunction and Defective Autophagy in the Pathogenesis of Collagen VI Muscular Dystrophies". Cold Spring Harbor Perspectives in Biology. 5 (5). a011387. doi:10.1101/cshperspect.a011387. ISSN 1943-0264. PMC 3632061. PMID 23580791.