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注意：仅列出部分参考文献，下载原文获取全部文献信息。A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations
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EUROPEAN JOURNAL OF HUMAN GENETICS (2023)
Hypotonic Infant with PURA Syndrome-related Channelopathy Successfully Treated with Pyridostigmine (vol 32, pg 166, 2022)
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NEUROMUSCULAR DISORDERS (2022)
PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications
Hebah Qashqari et al.
NEUROMUSCULAR DISORDERS (2022)
Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient
Yuya Fukuda et al.
HUMAN GENOME VARIATION (2022)
Complex Movement Disorders in a Boy with PURA Syndrome
Shan-Ju Lin et al.
MOVEMENT DISORDERS CLINICAL PRACTICE (2021)
Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome
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EPILEPTIC DISORDERS (2021)
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease
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NEUROPEDIATRICS (2021)
Neonatal PURA syndrome: a case report and literature review
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TRANSLATIONAL PEDIATRICS (2021)
The Molecular Function of PURA and Its Implications in Neurological Diseases
Lena Molitor et al.
FRONTIERS IN GENETICS (2021)
PURA-Related Developmental and Epileptic Encephalopathy
Katrine M. Johannesen et al.
NEUROLOGY-GENETICS (2021)
Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders
Sun Ah Choi et al.
BRAIN & DEVELOPMENT (2021)
The PRISMA 2020 statement: an updated guideline for reporting systematic reviews
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REVISTA ESPANOLA DE CARDIOLOGIA (2021)
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy
Ulrike B. S. Hedrich et al.
SCIENCE TRANSLATIONAL MEDICINE (2021)
RNA toxicity in non-coding repeat expansion disorders
Bart Swinnen et al.
EMBO JOURNAL (2020)
PURA Syndrome and Myotonia
Steven P. Trau et al.
PEDIATRIC NEUROLOGY (2020)
A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem
Maria Elena Rodriguez-Garcia et al.
JOURNAL OF GENETICS (2020)
circSamd4 represses myogenic transcriptional activity of PUR proteins
Poonam R. Pandey et al.
NUCLEIC ACIDS RESEARCH (2020)
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Margot R. F. Reijnders et al.
JOURNAL OF MEDICAL GENETICS (2018)
PURA, the gene encoding Pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions
Dianne C. Daniel et al.
GENE (2018)
A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?
Lia Mayorga et al.
MOLECULAR GENETICS AND METABOLISM (2018)
Expanding the neurodevelopmental phenotype of PURA syndrome
Bo Hoon Lee et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
Keiko Shimojima et al.
HUMAN GENOME VARIATION (2018)
Components of RNA granules affect their localization and dynamics in neuronal dendrites
Kazuhiko Mitsumori et al.
MOLECULAR BIOLOGY OF THE CELL (2017)
Metabotropic glutamate receptor, mGlu5, regulates hippocampal synaptic plasticity and is required for tetanisation-triggered changes in theta and gamma oscillations
Arthur Bikbaev et al.
NEUROPHARMACOLOGY (2017)
Premature Thelarche and the PURA Syndrome
Joshua Rezkalla et al.
OBSTETRICS AND GYNECOLOGY (2017)
Patient with a novel purine-rich element binding protein A mutation
Nobuhiko Okamoto et al.
CONGENITAL ANOMALIES (2017)
Pur-alpha regulates cytoplasmic stress granule dynamics and ameliorates FUS toxicity
J. Gavin Daigle et al.
ACTA NEUROPATHOLOGICA (2016)
MEMORY DEFICITS, GAIT ATAXIA AND NEURONAL LOSS IN THE HIPPOCAMPUS AND CEREBELLUM IN MICE THAT ARE HETEROZYGOUS FOR PUR-ALPHA
Mary F. Barbe et al.
NEUROSCIENCE (2016)
Pur-alpha functionally interacts with FUS carrying ALS-associated mutations
M. Di Salvio et al.
CELL DEATH & DISEASE (2015)
Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA
Maria Clara Bonaglia et al.
MOLECULAR CYTOGENETICS (2015)
De novo mutations in PURA are associated with hypotonia and developmental delay
Akemi J. Tanaka et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2015)
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
Seema R. Lalani et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
The Purα/Purβ Single-Strand DNA-Binding Proteins Attenuate Smooth-Muscle Actin Gene Transactivation in Myofibroblasts
Seethalakshmi Hariharan et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2014)
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
David Hunt et al.
JOURNAL OF MEDICAL GENETICS (2014)
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
Sarah Mizielinska et al.
ACTA NEUROPATHOLOGICA (2013)
The pur protein family: Genetic and structural features in development and disease
Edward M. Johnson et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2013)
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
Zihui Xu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome
Kana Hosoki et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Lack of Pur-alpha alters postnatal brain development and causes megalencephaly
Suvi Hokkanen et al.
HUMAN MOLECULAR GENETICS (2012)
Translational concepts of mGluR5 in synaptic diseases of the brain
Thomas M. Piers et al.
FRONTIERS IN PHARMACOLOGY (2012)
A New Microdeletion Syndrome of 5q31.3 Characterized by Severe Developmental Delays, Distinctive Facial Features, and Delayed Myelination
Keiko Shimojima et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature
Emily C. Lisi et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)
Multiple roles for Purα in cellular and viral regulation
Martyn K. White et al.
CELL CYCLE (2009)
Effect of fluoxetine on neuromuscular function in acetylcholinesterase (AChE) knockout mice
Christelle Bertrand et al.
CHEMICO-BIOLOGICAL INTERACTIONS (2008)
Proteomic analysis of nuclear factors binding to an intronic enhancer in the myelin proteolipid protein gene
Anna Dobretsova et al.
JOURNAL OF NEUROCHEMISTRY (2008)
The therapy of congenital myasthenic syndromes
Andrew G. Engel
NEUROTHERAPEUTICS (2007)
Neuronal RNA granules: Movers and makers
Michael A. Kiebler et al.
NEURON (2006)
Role of purα in targeting mRNA to sites of translation in hippocampal neuronal dendrites
EM Johnson et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2006)
Kinesin transports RNA: Isolation and characterization of an RNA-transporting granule
Y Kanai et al.
NEURON (2004)
Single-stranded DNA-binding proteins PURα and PURβ bind to a purine-rich negative regulatory element of the α-myosin heavy chain gene and control transcriptional and translational regulation of the gene expression -: Implications in the repression of α-myosin heavy chain during heart failure
M Gupta et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Purα is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse
K Khalili et al.
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Deletions of PURA, at 5q31, and PURB, at 7p13, in myelodysplastic syndrome and progression to acute myelogenous leukemia
K Lezon-Geyda et al.
LEUKEMIA (2001)
mGlu5 receptors and nociceptive function II. mGlu5 receptors functionally expressed on peripheral sensory neurones mediate inflammatory hyperalgesia
K Walker et al.
NEUROPHARMACOLOGY (2001)
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