Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy - sprookjes - yvandenbroek - TriplyDB

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

http://www.wikidata.org/entity/Q24517937

about

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1 Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2 Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy Nemaline myopathy: a clinical study of 143 cases Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse.Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus.Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathy Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.Skeletal muscle repair in a mouse model of nemaline myopathy.Fast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency.Nemaline myopathy type 6: clinical and myopathological features.Combined MRI and ³¹P-MRS investigations of the ACTA1(H40Y) mouse model of nemaline myopathy show impaired muscle function and altered energy metabolism.Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle.Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolism Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.Nemaline myopathy and heart failure: role of ivabradine; a case report.Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.Congenital myopathy caused by a novel missense mutation in the CFL2 gene.Tropomodulins and tropomyosins: working as a team Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.Myopathy with normal creatinine phosphokinase in a young man Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.

P2860

Q24290127-46BC4569-C151-4E34-BFE4-36541B45DA37 Q24290814-DB64B06A-F39C-4674-8D83-3295585CD5B3 Q24291196-B783179D-C8B0-4190-94D5-D484452C1514 Q24329180-9FE07CD2-6949-4440-985E-E53CA5D1DDC2 Q24649442-9025086D-D805-4688-9354-5597E331A991 Q28087567-34EA9758-3E6A-45C4-A13B-E582754D75C8 Q28202732-BA1D8C1A-AF6C-4AD0-9AF2-CBA8E6B8DE1E Q28216315-1CAA1AB9-7F2D-426F-A219-CCC1DA72446D Q28252275-FA72956D-0A4C-4D15-9470-69629A0C923F Q28511569-5846C134-A4A4-4D9E-A442-0C16DADD2A33 Q28975622-B4622F77-6605-485C-9EF2-30F67C659193 Q30009559-3CBDCC26-92F9-4B7B-A094-2231A5CA140C Q30090215-B02C19AE-A890-4956-85C7-9F91CDAAE872 Q30661724-4AE37235-26EE-4A00-A313-BE35CE663731 Q30819346-469E2124-F22E-4613-BED8-B90E76ACCEF5 Q33798635-EB95B663-4752-4217-91EC-4B1DD13A9A9E Q33902464-05598C80-857C-44E8-93D9-AEE3EEA12139 Q34174588-981B78B9-3F57-48EB-A1F0-8B1574B89C23 Q34277909-B5230FF0-6545-40EE-9E66-045C7F8B4977 Q34338251-EDFED61B-4F57-499C-AEE0-0979F5D139BD Q34381793-E642CD46-736E-45E3-992F-5938009C4564 Q34482872-9B0467D3-5119-4E75-976A-BC3FA4D09FBB Q34490328-6CDB613F-FB7E-4214-AE9C-AEF552206928 Q34528684-8BD9AB67-BFDC-4AFF-A3E6-B6CAF18845E3 Q34552514-53150167-E05C-4895-85C9-1E9B34B224FF Q34598238-6818D305-1F68-4FEF-A609-6DCFFD7DF12B Q34676213-8D122812-0F3D-42FA-9D16-619C921E2D51 Q34684528-1846504F-8B16-4919-B777-25CA3A86DF97 Q34959366-5A49152C-9738-4AB1-B533-D1EFF6C86AAF Q34973774-1D9B5299-5F23-4CB3-8DC9-2A823DC82F75 Q34989619-5A5463BB-01D5-42C2-95A6-304AD9A2B82E Q35166263-ACD27983-6889-4F5E-B6A3-08808003D822 Q35544382-D3B7D744-0FDA-4294-94C4-B7640E5E751B Q35576373-5A43C81A-0EA4-498F-9622-FF10198B7D1A Q36040738-C987A607-1C23-430E-9F1D-CEE03398AE18 Q36640510-6C5CDC03-F78D-4305-95D6-C781AF647C5D Q36904903-426C6755-E670-4BC8-91E3-42173100463C Q36990246-931D7D23-85E2-426E-BCD4-FF3894C5DEC2 Q37210424-3F9BA275-8337-4883-A527-82032EF403B7 Q37223258-597FBCFC-860E-4EBA-8E99-167333BA2FB5

P2860

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

http://www.wikidata.org/entity/Q24517937

description

1997 nî lūn-bûn

@nan

1997 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

1997 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

1997年の論文

@ja

1997年論文

@yue

1997年論文

@zh-hant

1997年論文

@zh-hk

1997年論文

@zh-mo

1997年論文

@zh-tw

1997年论文

@wuu

name

Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy

@ast

Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy

@en

Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy

@en-gb

Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy

@nl

type

label

Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy

@ast

Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy

@en

Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy

@en-gb

Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy

@nl

prefLabel

Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy

@ast

Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy

@en

Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy

@en-gb

Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy

@nl

P1433

Q24517937-4EE89805-90B3-4D98-9C45-5D975FB975EF

P1476

Q24517937-7B6B8E4A-0CE2-4978-B935-70AF97B90C7B

P2093

Q24517937-3CC7B689-E2F0-4166-AA83-4ED811900CAE

Q24517937-C4D153A5-651C-4358-8EB7-DD8825730293

P2860

Q24517937-060339FF-BEFD-4B8A-946D-82357180C40F

Q24517937-06E212B5-45A9-4268-8697-00F551BB9C45

Q24517937-131F2BD8-82B7-4C04-BED2-2B297ACD183E

Q24517937-23D49B2C-CA94-4ECE-ABA6-82DE7C900CB8

Q24517937-3FEC80F9-534C-45DC-BBDC-31173B3ABB26

Q24517937-4106231F-FD44-4666-8E68-86B2CA13583C

Q24517937-41FEE878-A233-4E40-94A8-EBA53ED25D0D

Q24517937-4836FF4F-5962-48D7-B8D8-F02E021E8D66

Q24517937-48779F92-882E-4F6B-94A1-A67E0811CD08

Q24517937-4A4A43FB-0993-4D77-9796-C128C06ED9EF

P304

Q24517937-482730B7-E6D5-4419-B193-5D5FA083DDAB

P31

Q24517937-161BBFE7-698A-4E22-9A81-8F6D3245E2AF

P3181

Q24517937-FC48EDE3-471A-45ED-A0BD-158A28887F95

P356

Q24517937-FDD44409-AB7C-4DF3-8EA1-0505402255D6

P407

Q24517937-5F8CDDB6-99D0-4411-8928-49A8EBC418C1

P433

Q24517937-C86ABBEA-A551-484C-9422-66C73232268B

P478

Q24517937-575A4D66-1C1D-4573-BE90-E0F3DB89A02D

P50

Q24517937-9086B0B4-BA0F-4B7D-AD93-7AD735A1A98F

P577

Q24517937-7B7511B2-962E-4AF3-84F1-BA58F13E3629

P5875

Q24517937-39DF5955-73E6-4529-8D02-D3DD0516DD0D

P698

Q24517937-D09C524B-EC3D-43D0-9AF7-AFD03F3074B8

P932

Q24517937-2268F620-E03F-4F37-9A7C-3D0641C3E898

P3181

P356

P1433

Journal of Medical Genetics

P1476

Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy

@en

P2093

C Wallgren-Pettersson

http://www.w3.org/2001/XMLSchema#string

N G Laing

http://www.w3.org/2001/XMLSchema#string

P2860

Assignment of the human alpha-tropomyosin gene TPM4 to band 19p13.1 by fluorescence in situ hybridization

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

Genetics of congenital nemaline myopathy: a study of 10 families.

Abundant nuclear rods in adult-onset rod disease.

Late-onset rod myopathy (a new syndrome?): light and electron microscopic observations in two cases.

Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization.

P304

705-713

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P3181

3084726

http://www.w3.org/2001/XMLSchema#string

P356

10.1136/JMG.34.9.705

http://www.w3.org/2001/XMLSchema#string

P407

P433

9

http://www.w3.org/2001/XMLSchema#string

P478

34

http://www.w3.org/2001/XMLSchema#string

P50

P577

1997-09-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

13903852

http://www.w3.org/2001/XMLSchema#string

P698

9321754

http://www.w3.org/2001/XMLSchema#string

P932

1051052

http://www.w3.org/2001/XMLSchema#string