Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51724
Abstract: NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic paraplegia type 6 (SPG6). The aim of this study was to investigate the clinical and genetic features of SPG6 in… read more here.
Keywords: spastic paraplegia; paraplegia; hereditary spastic; genetic characterization ... See more keywords
A prospective evaluation of clinical and genetic predictors of weight changes in breast cancer survivors
Sign Up to like & getrecommendations! Published in 2017 at "Cancer"
DOI: 10.1002/cncr.30628
Abstract: Postdiagnosis weight gain in patients with breast cancer has been associated with increased cancer recurrence and mortality. This study was designed to identify risk factors for weight gain and create a predictive model to identify… read more here.
Keywords: evaluation clinical; prospective evaluation; clinical genetic; breast cancer ... See more keywords
Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10231
Abstract: Neurodevelopmental disorders (NDDs) are heterogeneous genetic conditions of the central nervous system (CNS). Primary phenotypes of NDDs include epilepsy, loss of developmental skills, abnormal movements, muscle weakness, ocular anomalies, hearing problems, and macro‐ or microcephaly.… read more here.
Keywords: neurodevelopmental disorders; minpp1 ngly1; kptn minpp1; genetic characterization ... See more keywords
Parkinsonism due to A53E α‐synuclein gene mutation: Clinical, genetic, epigenetic, and biochemical features
Sign Up to like & getrecommendations! Published in 2018 at "Movement Disorders"
DOI: 10.1002/mds.27506
Abstract: SNCA mutations cause autosomal dominant parkinsonism and inform our understanding of the molecular underpinnings of synucleinopathies. The most recently identified mutation, p.Ala53Glu (A53E), has only been observed in Finland. The objectives of this study were… read more here.
Keywords: clinical genetic; epigenetic biochemical; biochemical features; genetic epigenetic ... See more keywords
A clinical and genetic study of early‐onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next‐generation sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Movement Disorders"
DOI: 10.1002/mds.27633
Abstract: Recent genetic progress has allowed for the molecular diagnosis of Parkinson's disease. However, genetic causes of PD vary widely in different ethnicities. Mutational frequencies and clinical phenotypes of genes associated with PD in Asian populations… read more here.
Keywords: early onset; study; onset familial; clinical genetic ... See more keywords
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
DOI: 10.1002/mds.29015
Abstract: Ataxia with oculomotor apraxia (AOA) is characterized by early‐onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in APTX, SETX, PIK3R5, and PNKP genes, respectively. Mutations in… read more here.
Keywords: oculomotor; characterization brazilian; ataxia oculomotor; genetic characterization ... See more keywords
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1132
Abstract: Pathogenic SMAD3 variants are responsible for a cardiovascular phenotype, mainly thoracic aortic aneurysms and dissections. Precocious identification of the vascular risk such as aortic dilatation in mutated patients has a major impact in terms of… read more here.
Keywords: genetic data; clinical genetic; patients smad3; data new ... See more keywords
Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1177
Abstract: Nonsyndromic hearing loss is clinically and genetically heterogeneous. In this study, we characterized the clinical features of 12 Chinese Han deaf families in which mutations in common deafness genes GJB2, SLC26A4, and MT‐RNR1 were excluded. read more here.
Keywords: chinese han; study; study chinese; clinical genetic ... See more keywords
Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1471
Abstract: Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with variable multisystem involvement and genetic heterogeneity. We aimed to analyze the clinical and genetic characteristics of Chinese individuals with CdLS. read more here.
Keywords: characteristics chinese; lange syndrome; clinical genetic; genetic characteristics ... See more keywords
Clinical Genetic Testing for Fragile X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses.
Sign Up to like & getrecommendations! Published in 2019 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-9080-1_2
Abstract: Fragile X syndrome (FXS) is characterized by mental retardation and in the vast majority of cases it is caused by expansion of CGG trinucleotide repeats in the 5' untranslated region (or UTR) in the FMR1 gene… read more here.
Keywords: genetic testing; fragile syndrome; clinical genetic; chain reaction ... See more keywords
Rare Neurodegenerative Diseases: Clinical and Genetic Update.
Sign Up to like & getrecommendations! Published in 2017 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-67144-4_25
Abstract: More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical course, and neuronal loss with regional specificity in the central nervous system.… read more here.
Keywords: disease; neurodegenerative diseases; clinical genetic; diseases clinical ... See more keywords