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   Articles with "clinical genetic" as a keyword



Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia

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recommendations! 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

SCAR32: Functional characterization and expansion of the clinical‐genetic spectrum

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recommendations! Published in 2024 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.52094

Abstract: Biallelic mutations in PRDX3 have been linked to autosomal recessive spinocerebellar ataxia type 32. In this study, which aims to contribute to the growing body of knowledge on this rare disease, we identified two unrelated… read more here.

Keywords: genetic spectrum; clinical genetic; scar32 functional; characterization expansion ... See more keywords

Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral–Pallidoluysian Atrophy Patients

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recommendations! Published in 2025 at "Annals of Neurology"

DOI: 10.1002/ana.27293

Abstract: Dentatorubral–pallidoluysian atrophy (DRPLA) is a rare, inherited neurodegenerative disorder caused by the expansion of cytosine–adenine–guanine repeats in ATN1. Most studies on DRPLA to date are limited to case reports. We aimed to provide a comprehensive… read more here.

Keywords: clinical genetic; pallidoluysian atrophy; findings chinese; genetic findings ... See more keywords
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A prospective evaluation of clinical and genetic predictors of weight changes in breast cancer survivors

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recommendations! 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 analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations

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recommendations! Published in 2024 at "Epilepsia Open"

DOI: 10.1002/epi4.13028

Abstract: To summarize the clinical features and genetic mutation characteristics of Chinese children with KCNQ2‐related epilepsy. read more here.

Keywords: children epilepsy; genetic analysis; clinical genetic; analysis chinese ... 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

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recommendations! 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
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Parkinsonism due to A53E α‐synuclein gene mutation: Clinical, genetic, epigenetic, and biochemical features

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recommendations! 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
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A clinical and genetic study of early‐onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next‐generation sequencing

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recommendations! 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

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recommendations! 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

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recommendations! 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

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recommendations! 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