"Muscular Dystrophies" - Books

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Select item 14589841.

GeneReviews® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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Select item 44036682.

StatPearls [Internet].

Treasure Island (FL): StatPearls Publishing; 2024 Jan-.

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Select item 14152803.

Madame Curie Bioscience Database [Internet].

Austin (TX): Landes Bioscience; 2000-2013.

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Select item 47837764.

Suspected neurological conditions: recognition and referral.

National Guideline Centre (UK).

London: National Institute for Health and Care Excellence (NICE); 2019 May. (NICE Guideline, No. 127.)

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Select item 51688025.

Respite care and short breaks for young adults aged 18–40 with complex health-care needs: mixed-methods systematic review and conceptual framework development.

Knighting K, Pilkington G, Noyes J, et al.

Southampton (UK): NIHR Journals Library; 2021 Feb. (Health Services and Delivery Research, No. 9.6.)

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Select item 53666726.

Antisense RNA Design, Delivery, and Analysis [Internet].

Arechavala-Gomeza V, Garanto A, editors.

New York: Humana; 2022.

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Select item 26591827.

Database of Abstracts of Reviews of Effects (DARE): Quality-assessed Reviews [Internet].

York (UK): Centre for Reviews and Dissemination (UK); 1995-.

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Select item 19546428.

NIH Extramural Center Programs: Criteria for Initiation and Evaluation.

Institute of Medicine (US) Committee for Assessment of NIH Centers of Excellence Programs; Manning FJ, McGeary M, Estabrook R, editors.

Washington (DC): National Academies Press (US); 2004.

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Select item 54829309.

Glycoscience Protocols (GlycoPODv2) [Internet].

Nishihara S, Angata K, Aoki-Kinoshita KF, et al., editors.

Saitama (JP): Japan Consortium for Glycobiology and Glycotechnology; 2021-.

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Select item 532167210.

Essentials of Glycobiology [Internet]. 4th edition.

Varki A, Cummings RD, Esko JD, et al., editors.

Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2022.

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Select item 437649811.

Cerebral palsy in under 25s: assessment and management.

National Guideline Alliance (UK).

London: National Institute for Health and Care Excellence (NICE); 2017 Jan. (NICE Guideline, No. 62.)

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Select item 527797212.

Evidence reviews for heart disease: Intrapartum care for women with existing medical conditions or obstetric complications and their babies: Evidence review C.

National Guideline Alliance (UK).

London: National Institute for Health and Care Excellence (NICE); 2019 Mar. (NICE Guideline, No. 121.)

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Select item 493578613.

Dilated Cardiomyopathy: From Genetics to Clinical Management [Internet].

Sinagra G, Merlo M, Pinamonti B, editors.

Cham (CH): Springer; 2019.

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Select item 485381614.

LiverTox: Clinical and Research Information on Drug-Induced Liver Injury [Internet].

Bethesda (MD): National Institute of Diabetes and Digestive and Kidney Diseases; 2012-.

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Select item 438852415.

Exploring the State of the Science in the Field of Regenerative Medicine: Challenges of and Opportunities for Cellular Therapies: Proceedings of a Workshop.

National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Board on Health Sciences Policy; Forum on Regenerative Medicine.

Washington (DC): National Academies Press (US); 2017 Mar 15.

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Select item 340129416.

Endotext [Internet].

Feingold KR, Anawalt B, Blackman MR, et al., editors.

South Dartmouth (MA): MDText.com, Inc.; 2000-.

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Select item 239159617.

Breakthrough Business Models: Drug Development for Rare and Neglected Diseases and Individualized Therapies: Workshop Summary.

Institute of Medicine (US) Forum on Drug Discovery, Development, and Translation.

Washington (DC): National Academies Press (US); 2009.

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Select item 502838018.

Exploring Novel Clinical Trial Designs for Gene-Based Therapies: Proceedings of a Workshop.

National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Board on Health Sciences Policy; Forum on Regenerative Medicine; Beachy SH, Alper J, Hackmann M, et al., editors.

Washington (DC): National Academies Press (US); 2020 Apr 9.

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Select item 493741019.

Noninvasive Positive Pressure Ventilation in the Home [Internet].

Wang Z, Wilson M, Dobler CC, et al.

Rockville (MD): Agency for Healthcare Research and Quality (US); 2019 Mar 14.

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Select item 526842220.

Noninvasive Positive Pressure Ventilation in the Home (with addendum) [Internet].

Wilson M, Wang Z, Dobler CC, et al.

Rockville (MD): Agency for Healthcare Research and Quality (US); 2020 Apr 2.

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FIGURE 42.4

Location of glycosylation defects in the O-mannosyl glycosylation pathway leading to congenital muscular dystrophies. The biosynthesis of O-mannosyl glycans primarily on α-dystroglycan first involves the addition of mannose to serine or threonine residues catalyzed by the POMT1/POMT2-encoded mannosyltransferase complex, which uses dolichol-P-mannose as donor. A deficiency of this enzyme activity causes some cases of Walker–Warburg syndrome (WWS). β1-2GlcNAc is then added to mannose using the enzyme encoded by POMGNT1. Disruption of this step causes muscle–eye–brain (MEB) disease. The O-mannosyl glycan is extended with galactose and sialic acid residues using unknown transferases. The genes Fukutin, FKRP, and LARGE have glycosyltransferase motifs, but have not been shown to catalyze any specific reaction. (Adapted, with permission, Patterson M.C. 2006. Disorders of glycosylation. In Pediatric neurology, 4th ed. [ed. K. Swaiman et al.], p. 653, ©Elsevier.)
Symbol Key:

Genetic Disorders of Glycosylation.

Varki A, Cummings RD, Esko JD, et al., editors. Essentials of Glycobiology. 2nd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2009.