proline and Limb-Girdle Muscular Dystrophies

proline has been researched along with Limb-Girdle Muscular Dystrophies in 3 studies

Research

Studies (3)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	2 (66.67)	29.6817
2010's	1 (33.33)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Allred, P; Baloh, RH; Bell, S; Cooper, P; Harms, MB; Lopate, G; Ma, D; Pestronk, A; Sommerville, RB; Weihl, CC	1
Balci, B; Dincer, P; Gross, C; Haliloglu, G; Hehr, U; Kale, G; Talim, B; Topaloğlu, H; Uyanik, G; Willer, T; Winkler, J	1
Ben Yaou, R; Bonne, G; Decostre, V	1

Reviews

1 review(s) available for proline and Limb-Girdle Muscular Dystrophies

Article	Year
Laminopathies affecting skeletal and cardiac muscles: clinical and pathophysiological aspects. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2005, Volume: 24, Issue:2 Topics: Animals; Cardiomyopathy, Dilated; Disease Models, Animal; Humans; Lamin Type A; Lamins; Leucine; Muscle, Skeletal; Muscular Dystrophies, Limb-Girdle; Muscular Dystrophy, Emery-Dreifuss; Myocardium; Nuclear Envelope; Proline	2005

Article

Year

Laminopathies affecting skeletal and cardiac muscles: clinical and pathophysiological aspects.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2005, Volume: 24, Issue:2

Topics: Animals; Cardiomyopathy, Dilated; Disease Models, Animal; Humans; Lamin Type A; Lamins; Leucine; Muscle, Skeletal; Muscular Dystrophies, Limb-Girdle; Muscular Dystrophy, Emery-Dreifuss; Myocardium; Nuclear Envelope; Proline

2005

Other Studies

2 other study(ies) available for proline and Limb-Girdle Muscular Dystrophies

Article	Year
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Annals of neurology, 2012, Volume: 71, Issue:3 Topics: Adolescent; Adult; Amino Acid Sequence; Arginine; Exome; Female; Genes, Dominant; Genome-Wide Association Study; HSP40 Heat-Shock Proteins; Humans; Male; Middle Aged; Molecular Chaperones; Molecular Sequence Data; Muscular Diseases; Muscular Dystrophies, Limb-Girdle; Mutation; Nerve Tissue Proteins; Pedigree; Proline; Protein Structure, Tertiary; Sequence Analysis, DNA; Young Adult	2012
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscular disorders : NMD, 2005, Volume: 15, Issue:4 Topics: Adolescent; Adult; Alanine; Alleles; Child; DNA Mutational Analysis; Female; Humans; Intellectual Disability; Male; Mannosyltransferases; Models, Molecular; Muscular Dystrophies, Limb-Girdle; Mutation; Phenotype; Polymorphism, Single Nucleotide; Proline; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger	2005

Article

Year

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.

Annals of neurology, 2012, Volume: 71, Issue:3

Topics: Adolescent; Adult; Amino Acid Sequence; Arginine; Exome; Female; Genes, Dominant; Genome-Wide Association Study; HSP40 Heat-Shock Proteins; Humans; Male; Middle Aged; Molecular Chaperones; Molecular Sequence Data; Muscular Diseases; Muscular Dystrophies, Limb-Girdle; Mutation; Nerve Tissue Proteins; Pedigree; Proline; Protein Structure, Tertiary; Sequence Analysis, DNA; Young Adult

2012

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.

Neuromuscular disorders : NMD, 2005, Volume: 15, Issue:4

Topics: Adolescent; Adult; Alanine; Alleles; Child; DNA Mutational Analysis; Female; Humans; Intellectual Disability; Male; Mannosyltransferases; Models, Molecular; Muscular Dystrophies, Limb-Girdle; Mutation; Phenotype; Polymorphism, Single Nucleotide; Proline; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger

2005