Autosomal dominant familial dilated cardiomyopathy caused by a novel mutation in phospholamban

Autosomal dominant familial dilated cardiomyopathy caused by a novel mutation in phospholamban

Dades bibliogràfiques
Autors principals:	Carballo, S, Blair, E, Watkins, H
Format:	Conference item
Publicat:	2004

Ítems similars

A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance
per: Carballo, S, et al.
Publicat: (2004)

Autosomal dominant HCM and DCM phenotype caused by a novel mutation in phospholamban
per: Carballo, S, et al.
Publicat: (2004)

Identification and functional analysis of cardiac troponin I as a novel disease gene in autosomal dominant familial dilated cardiomyopathy
per: Carballo, S, et al.
Publicat: (2006)

Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
per: Carballo, S, et al.
Publicat: (2009)

Structures of PKA–phospholamban complexes reveal a mechanism of familial dilated cardiomyopathy
per: Juan Qin, et al.
Publicat: (2022-03-01)

A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
per: Niloofar Naderi, et al.
Publicat: (2023-10-01)

Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
per: Carballo, S, et al.
Publicat: (2005)

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.
per: Lakdawala, N, et al.
Publicat: (2010)

Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
per: Carballo, S, et al.
Publicat: (2005)

Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
per: Carballo, S, et al.
Publicat: (2003)

Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
per: Carballo, S, et al.
Publicat: (2005)

Dilated cardiomyopathy and the desmin gene.
per: Mayosi, B, et al.
Publicat: (2000)

Functional effects of mutations in troponin T and tropomyosin which cause dilated cardiomyopathy
per: Robinson, P, et al.
Publicat: (2003)

Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric DCM
per: Lakdawala, N, et al.
Publicat: (2009)

Phospholamban antisense oligonucleotides improve cardiac function in murine cardiomyopathy
per: Niels Grote Beverborg, et al.
Publicat: (2021-08-01)

A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia
per: Carol A. Wittlieb-Weber, MD, et al.
Publicat: (2016-01-01)

Novel MIP gene mutation causes autosomal-dominant congenital cataract
per: Jing-Lan Ni, et al.
Publicat: (2024-03-01)

A novel mutation of LIM2 causes autosomal dominant membranous cataract in a Chinese family
per: Rui Pei, et al.
Publicat: (2020-10-01)

Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
per: Robinson, P, et al.
Publicat: (2002)

A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family
per: Yu Zhou, et al.
Publicat: (2016-01-01)

Structure-function relationships of eight mutations in troponin and tropomyosin that cause dilated cardiomyopathy
per: Mirza, M, et al.
Publicat: (2004)

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
per: Dirk J Lefeber, et al.
Publicat: (2011-12-01)

Mutation in δ-Sg Gene in Familial Dilated Cardiomyopathy
per: Marzieh Asadi, et al.
Publicat: (2017-01-01)

Desmoplakin mutation underlying autosomal dominant arrhythmogenic cardiomyopathy, palmoplantar keratoderma, and curly hair
per: Colin Kincaid, BS, et al.
Publicat: (2023-06-01)

Combination of Whole Genome Sequencing, Linkage and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy with Features of Left Ventricular Non-Compaction.
per: Hastings, R, et al.
Publicat: (2016)

Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis
per: Hafiz Muhammad Jafar Hussain, et al.
Publicat: (2022-11-01)

Cardiomyopathy, familial dilated
per: Mestroni Luisa, et al.
Publicat: (2006-07-01)

A novel RP1 truncating mutation that causes autosomal dominant retinitis pigmentosa (ADRP)
per: Wei Wu, et al.
Publicat: (2025-02-01)

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
per: Caroline Van Cauwenbergh, et al.
Publicat: (2017-01-01)

Novel LMNA Mutation in a Taiwanese Family with Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
per: Wen-Chen Liang, et al.
Publicat: (2007-01-01)

Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.
per: Walker, R, et al.
Publicat: (2012)

Tafazzin gene mutations are uncommon causes of dilated cardiomyopathy in adults
per: Matthew Taylor, et al.
Publicat: (2011-07-01)

The Mutations Associated with Dilated Cardiomyopathy
per: Ruti Parvari, et al.
Publicat: (2012-01-01)

Gain-of-Function Mutations in G alpha 11 Cause a Novel Form of Autosomal-Dominant Hypoparathyroidism
per: Mannstadt, M, et al.
Publicat: (2013)

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
per: Abdulrazzak, H, et al.
Publicat: (2001)

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
per: Williams, C, et al.
Publicat: (2002)

An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation
per: Khushal B Jadhav, et al.
Publicat: (2012-01-01)

A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.
per: Yu Su, et al.
Publicat: (2014-01-01)

A novel role for phospholamban in the thalamic reticular nucleus
per: Benjamin Klocke, et al.
Publicat: (2024-03-01)

A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract
per: Yung-Hao Ching, et al.
Publicat: (2019-01-01)