Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
about
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityCandidate-gene testing for orphan limb-girdle muscular dystrophiesFurther evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardationFounder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish familiesCongenital muscular dystrophies: a brief reviewBiochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.Diagnostic approach to the congenital muscular dystrophies.Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscleCardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2ILimb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies.Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye InvolvementAn immunological analysis of dystroglycan subunits: lessons learned from a small cohort of non-congenital dystrophic patients.ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy casesMislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding ameliorationAn analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Congenital protein hypoglycosylation diseases.Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.Muscular dystrophies due to defective glycosylation of dystroglycan.Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies.Muscular dystrophies due to glycosylation defects.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.Consensus statement on standard of care for congenital muscular dystrophies.The Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesThe ever-expanding spectrum of congenital muscular dystrophies.Neuromuscular disorders in zebrafish: state of the art and future perspectives.Genetic basis of limb-girdle muscular dystrophies: the 2014 updateIntermittent Glucocorticoid Dosing Improves Muscle Repair and Function in Mice with Limb Girdle Muscular Dystrophy.Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.Illness-associated muscle weakness in dystroglycanopathies.Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.Treating pediatric neuromuscular disorders: The future is now.
P2860
Q24321993-9B310581-D76F-4FD7-8710-E10BA6EB89DBQ24633227-A2529CC4-181D-422B-8D68-E5C0DC816D48Q24644306-64B9BD17-2BAD-4E65-8B5C-A6BA5A16E7E3Q24644363-2B06A100-8392-4D2D-9E7F-8B82963019A4Q28255519-E9E66207-FD1C-439C-8F20-CD17A7F1D1C7Q30400284-017F859E-A379-411E-BE8D-FAEE5B9CAB20Q30767612-6F8EE6EC-4387-4E58-8ADA-0D205D77F967Q33608787-443CA5D4-62C7-4FC5-B65C-7DA32713BCAAQ33784310-73E2AE43-0E7D-4D4C-AC54-B6E923761E86Q33820866-DECFBCED-9AD8-4502-9085-1941A1B494E7Q33837536-E67ED18B-3362-4957-B11C-2D3DE85F13F6Q35216340-2E95E2DD-60D0-4716-80C9-328BFB302376Q35480081-07F322C1-D022-4DF4-B9ED-E24151E0BEA7Q35787376-F70A04E6-F28E-4C6E-B1D2-DABDE25BD7B4Q35868240-BA3F5C61-6F3A-4BC7-891D-397BE89FCE85Q35896989-7EEE04CB-89CD-4215-A767-D7815D819D45Q36925245-353AF976-9CEB-479F-8849-EE14340FACE4Q37090108-52C314AB-1F4F-4E73-AE37-137FDBE2F61EQ37223736-5DA346CA-8F8E-4A17-B6E6-A0FCA0971307Q37329558-3A3418D7-A4C0-4883-9EA1-9E96D6BE765CQ37329563-166EBB91-8497-4B35-878A-4E474529D88CQ37426320-97F7A0D0-85AC-4490-ADCB-9D598C8BEA2AQ37528083-38E01389-F31C-4AFC-B682-20572573437EQ37552615-377F3FBA-B564-4D5D-BC39-BCF2462DE506Q37610524-09D08B41-112D-4348-9A06-E9DB48DC1200Q38029277-6BFC6EB3-92B4-4D67-8FCF-BD04D6A9707FQ38098929-6ACDDAB1-7BAA-4AAE-BD01-D560E5DDF856Q38213016-B39F915B-92B4-4A88-9520-0EFD8727D7F3Q38617041-4DEC0A8E-4E2A-45C1-9F87-EF29159120D5Q45327358-3D379563-A6D5-49E4-B727-5027CF9808D8Q47442974-7A94430D-9C02-49C7-BE82-1EBB8A559373Q48357459-21422339-71F1-49E0-BCEE-4BBADBC27FF4Q52756417-DB4DC3FE-FB30-4F2F-B9BB-0C239966B655
P2860
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
description
2006 nî lūn-bûn
@nan
2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
@ast
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
@en
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
@nl
type
label
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
@ast
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
@en
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
@nl
prefLabel
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
@ast
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
@en
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
@nl
P2093
P50
P356
P1433
P1476
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
@en
P2093
Caroline A Sewry
Caroline Godfrey
Diana Escolar
Emma M Clement
Mary Rutherford
Rachael Mein
Silvia Torelli
Stephen Abbs
Yehuda Shapira
P2860
P304
P356
10.1002/ANA.21006
P407
P577
2006-11-01T00:00:00Z