相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene
Sifei Wu et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2021)
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots
Xinying Hong et al.
GENETICS IN MEDICINE (2021)
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry
Xinying Hong et al.
ANALYTICAL CHEMISTRY (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
Vera G. Pshennikova et al.
TheScientificWorldJOURNAL (2019)
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016
Wyatt T. Clark et al.
HUMAN MUTATION (2019)
Phenotypic variation between siblings with Metachromatic Leukodystrophy
Saskia Elguen et al.
ORPHANET JOURNAL OF RARE DISEASES (2019)
Teaching NeuroImages: A rare case of metachromatic leukodystrophy with multiple bilateral cranial nerve enhancement
Purabi Sonowal et al.
NEUROLOGY (2019)
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy
Dhanya Lakshmi Narayanan et al.
JOURNAL OF HUMAN GENETICS (2019)
Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)
D. Hettiarachchi et al.
BMC RESEARCH NOTES (2019)
A closer look at ARSA activity in a patient with metachromatic leukodystrophy
Kathleen Doherty et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2019)
LATE INFANTILE TYPE OF METACHROMATIC LEUKODYSTROPHY CAUSED BY NOVEL COMBINATION OF HETEROZYGOUS ARSA MUTATIONS
I. I. Kavecan et al.
ACTA ENDOCRINOLOGICA-BUCHAREST (2018)
Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics
Corinna Ernst et al.
BMC MEDICAL GENOMICS (2018)
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families
Raquel Perez-Carro et al.
PLOS ONE (2018)
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence
Wyatt T. Clark et al.
PLOS ONE (2018)
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy
Li Chen et al.
INTERNATIONAL JOURNAL OF GENOMICS (2018)
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment
Agnes Miko et al.
HUMAN MUTATION (2018)
Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD
Abir Ben Issa et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2018)
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
Neda Golchin et al.
GENETICS AND MOLECULAR BIOLOGY (2017)
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells
Judith Boehringer et al.
HUMAN MUTATION (2017)
Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I
Rachele Penati et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation
Muhammad Aiman Shahzad et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2017)
Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen
Urszula Lechowicz et al.
SCIENTIFIC REPORTS (2017)
Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
Masoumeh Dehghan Manshadi et al.
THERAPEUTICS AND CLINICAL RISK MANAGEMENT (2017)
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy
Martina Cesani et al.
HUMAN MUTATION (2016)
Outcome of Early Juvenile Onset Metachromatic Leukodystrophy After Unrelated Cord Blood Transplantation: A Case Series and Review of the Literature
Xuqin Chen et al.
JOURNAL OF CHILD NEUROLOGY (2016)
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome
Jonas Alex Morales Saute et al.
ARQUIVOS DE NEURO-PSIQUIATRIA (2016)
Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree
Zhihong Wang et al.
CLINICA CHIMICA ACTA (2016)
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene
Katharina Stoeck et al.
JOURNAL OF ALZHEIMERS DISEASE (2016)
Expression of Individual Mutations and Haplotypes in the Galactocerebrosidase Gene Identified by the Newborn Screening Program in New York State and in Confirmed Cases of Krabbe's Disease
Carlos A. Saavedra-Matiz et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2016)
Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial
Mario Sessa et al.
LANCET (2016)
Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy
Diane F. van Rappard et al.
NEUROLOGY (2016)
Childhood Pompe disease: clinical spectrum and genotype in 31 patients
C. I. van Capelle et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
Thickening of the optic nerves in metachromatic leucodystrophy: A new MRI finding
Dylan Roi et al.
NEURORADIOLOGY JOURNAL (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
TransVar: a multilevel variant annotator for precision genomics
Wanding Zhou et al.
NATURE METHODS (2015)
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum
Olimpia Musumeci et al.
NEUROMUSCULAR DISORDERS (2015)
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia
Hsiang-Ru Liaw et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature
Gauthier Remiche et al.
JOURNAL OF NEUROLOGY (2014)
A framework for the interpretation of de novo mutation in human disease
Kaitlin E. Samocha et al.
NATURE GENETICS (2014)
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
Kalman Tory et al.
NATURE GENETICS (2014)
Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy
Paola Luzi et al.
GENE (2013)
An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene
Daniela Galla et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2013)
Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy
Alessandra Biffi et al.
SCIENCE (2013)
Improvement of White Matter Changes on Neuroimaging Modalities After Stem Cell Transplant in Metachromatic Leukodystrophy
Martje E. van Egmond et al.
JAMA NEUROLOGY (2013)
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations
Andreas Herzog et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population
Pallavi Shukla et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2011)
Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene
I. Gottwald et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Molecular and clinical consequences of novel mutations in the arylsulfatase A gene
A. Lugowska et al.
CLINICAL GENETICS (2009)
Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy
Evren Oender et al.
NEUROLOGICAL RESEARCH (2009)
Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation
A. Biffi et al.
CLINICAL GENETICS (2008)
Molecular Analysis of ARSA and PSAP Genes in Twenty-one Italian Patients with Metachromatic Leukodystrophy: Identification and Functional Characterization of 11 Novel ARSA Alleles
Serena Grossi et al.
HUMAN MUTATION (2008)
Mutational analysis of 105 mucopolysaccharidosis type VI patients
Litsa Karageorgos et al.
HUMAN MUTATION (2007)
ARSA gene mutations in five Chinese metachromatic leukodystrophy patients
Jingmin Wang et al.
PEDIATRIC NEUROLOGY (2007)
Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy
M Bertelli et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2006)
Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients
O Neudorfer et al.
GENETICS IN MEDICINE (2005)
Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene
S Gallo et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2004)
Novel mutations associated with metachromatic leukodystrophy:: Phenotype and expression studies in nine Czech and Slovak patients
L Berná et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy
MA Rafi et al.
MOLECULAR GENETICS AND METABOLISM (2003)
Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy
NV Olkhovich et al.
MOLECULAR GENETICS AND METABOLISM (2003)
The diagnostic odds ratio: a single indicator of test performance
AS Glas et al.
JOURNAL OF CLINICAL EPIDEMIOLOGY (2003)
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
S Regis et al.
HUMAN GENETICS (2002)
Defective oligomerization of arylsulfatase A as a cause of its instability in lysosomes and metachromatic leukodystrophy
R von Bülow et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Dementia with impaired temporal glucose metabolism in late-onset metachromatic leukodystrophy
P Johannsen et al.
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS (2001)
分享论文
