Clinical and molecular aspects of the myotonic dystrophies: a review.
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Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patientsMyotonic disorders: A review articleCongenital and childhood myotonic dystrophy: Current aspects of disease and future directionsEpigenetic boundaries of tumour suppressor gene promoters: the CTCF connection and its role in carcinogenesisDiagnostic impact of myotonic discharges in myofibrillar myopathies.Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms.FMR1 premutation is an uncommon explanation for premature ovarian failure in Han Chinese.Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract.The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease.If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).The structural basis of myotonic dystrophy from the crystal structure of CUG repeatsMBNL proteins and their target RNAs, interaction and splicing regulation.Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease.Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to childExpanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissuesModifications to toxic CUG RNAs induce structural stability, rescue mis-splicing in a myotonic dystrophy cell model and reduce toxicity in a myotonic dystrophy zebrafish model.DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression.Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines.Hypothesis: neoplasms in myotonic dystrophy.Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress.Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.Identification of Plant-derived Alkaloids with Therapeutic Potential for Myotonic Dystrophy Type IFrom dynamic combinatorial 'hit' to lead: in vitro and in vivo activity of compounds targeting the pathogenic RNAs that cause myotonic dystrophy.Towards an integrative approach to the management of myotonic dystrophy type 1Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1.Increased cancer risks in myotonic dystrophy.Extraocular mitochondrial myopathies and their differential diagnoses.Development and validation of a muscular dystrophy-specific functional rating scale.RNA in brain disease: no longer just "the messenger in the middle".Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice.Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells.Progress in therapeutic antisense applications for neuromuscular disorders.Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I.Symptom burden in persons with myotonic and facioscapulohumeral muscular dystrophy.Perspectives on gene therapy in myotonic dystrophy type 1.Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy.Ophthalmic manifestations of inherited neurodegenerative disorders.
P2860
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P2860
Clinical and molecular aspects of the myotonic dystrophies: a review.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Clinical and molecular aspects of the myotonic dystrophies: a review.
@ast
Clinical and molecular aspects of the myotonic dystrophies: a review.
@en
type
label
Clinical and molecular aspects of the myotonic dystrophies: a review.
@ast
Clinical and molecular aspects of the myotonic dystrophies: a review.
@en
prefLabel
Clinical and molecular aspects of the myotonic dystrophies: a review.
@ast
Clinical and molecular aspects of the myotonic dystrophies: a review.
@en
P2860
P356
P1433
P1476
Clinical and molecular aspects of the myotonic dystrophies: a review
@en
P2093
David Hilton-Jones
Laura Machuca-Tzili
P2860
P356
10.1002/MUS.20301
P50
P577
2005-07-01T00:00:00Z