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。Epidemiological investigation of spinal muscular atrophy in Japan
Mayuri Ito et al.
BRAIN & DEVELOPMENT (2022)
Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology
Koyo Tsujikawa et al.
SCIENCE ADVANCES (2022)
Mid1 is associated with androgen-dependent axonal vulnerability of motor neurons in spinal and bulbar muscular atrophy
Yosuke Ogura et al.
CELL DEATH & DISEASE (2022)
Selective suppression of polyglutamine-expanded protein by lipid nanoparticle-delivered siRNA targeting CAG expansions in the mouse CNS
Tomoki Hirunagi et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2021)
Cerebrospinal fluid MFG-E8 as a promising biomarker of amyotrophic lateral sclerosis
Biying Yang et al.
NEUROLOGICAL SCIENCES (2020)
All-Trans Retinoic Acid Exerts Neuroprotective Effects in Amyotrophic Lateral Sclerosis-Like Tg (SOD1*G93A)1Gur Mice
Yu Zhu et al.
MOLECULAR NEUROBIOLOGY (2020)
Blocking p62-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes
Natalia Rodriguez-Muela et al.
JOURNAL OF CLINICAL INVESTIGATION (2018)
Developmental regulation of SMN expression: pathophysiological implications and perspectives for therapy development in spinal muscular atrophy
S. Jablonka et al.
GENE THERAPY (2017)
Aldehyde Dehydrogenases 1A2 Expression and Distribution are Potentially Associated with Neuron Death in Spinal Cord of Tg(SOD1*G93A)1 Gur Mice
Huiting Liang et al.
INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES (2017)
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy a literature review
Ingrid E. C. Verhaart et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Inhibition of autophagy delays motoneuron degeneration and extends lifespan in a mouse model of spinal muscular atrophy
Antonio Piras et al.
CELL DEATH & DISEASE (2017)
Therapeutic strategies for spinal muscular atrophy: SMN and beyond
Melissa Bowerman et al.
DISEASE MODELS & MECHANISMS (2017)
Mechanisms of neuronal homeostasis: Autophagy in the axon
Sandra Maday
BRAIN RESEARCH (2016)
The autophagy gene Wdr45/Wipi4 regulates learning and memory function and axonal homeostasis
Yan G. Zhao et al.
AUTOPHAGY (2015)
Galectin-1 deficiency improves axonal swelling of motor neurones in SOD1G93A transgenic mice
Y. Kobayakawa et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2015)
Foxp1-mediated programming of limb-innervating motor neurons from mouse and human embryonic stem cells
Katrina L. Adams et al.
NATURE COMMUNICATIONS (2015)
Rapid, efficient, and simple motor neuron differentiation from human pluripotent stem cells
Daisuke Shimojo et al.
MOLECULAR BRAIN (2015)
Trimmomatic: a flexible trimmer for Illumina sequence data
Anthony M. Bolger et al.
BIOINFORMATICS (2014)
Compromised axonal functionality after neurodegeneration, concussion and/or traumatic brain injury
Pedro D. Maia et al.
JOURNAL OF COMPUTATIONAL NEUROSCIENCE (2014)
Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy
Zhi-Bo Wang et al.
CELL RESEARCH (2013)
Retinoic acid signaling in spinal cord development
Ricardo Lara-Ramirez et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2013)
dnc-1/dynactin 1 Knockdown Disrupts Transport of Autophagosomes and Induces Motor Neuron Degeneration
Kensuke Ikenaka et al.
PLOS ONE (2013)
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy
Zhenxi Zhang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
FUS-regulated region- and cell-type-specific transcriptome is associated with cell selectivity in ALS/FTLD
Yusuke Fujioka et al.
SCIENTIFIC REPORTS (2013)
Emerging roles for retinoids in regeneration and differentiation in normal and disease states
Lorraine J. Gudas
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2012)
Retinoic acid signalling during development
Muriel Rhinn et al.
DEVELOPMENT (2012)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
NATURE (2012)
RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome
Bo Li et al.
BMC BIOINFORMATICS (2011)
Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy
Elisabet Dachs et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2011)
Brief Report: Phenotypic Rescue of Induced Pluripotent Stem Cell-Derived Motoneurons of a Spinal Muscular Atrophy Patient
Tammy Chang et al.
STEM CELLS (2011)
Pluripotent Stem Cells for the Study of CNS Development
Timothy J. Petros et al.
Frontiers in Molecular Neuroscience (2011)
Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy
Rocky G. Gogliotti et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)
edgeR: a Bioconductor package for differential expression analysis of digital gene expression data
Mark D. Robinson et al.
BIOINFORMATICS (2010)
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
Markus Riessland et al.
HUMAN MOLECULAR GENETICS (2010)
SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy
Thomas M. Wishart et al.
HUMAN MOLECULAR GENETICS (2010)
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Arthur H. M. Burghes et al.
NATURE REVIEWS NEUROSCIENCE (2009)
Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily
Satori A. Marchitti et al.
EXPERT OPINION ON DRUG METABOLISM & TOXICOLOGY (2008)
Retinoic acid in development:: towards an integrated view
Karen Niederreither et al.
NATURE REVIEWS GENETICS (2008)
Induction of autophagy in axonal dystrophy and degeneration
Qing Jun Wang et al.
JOURNAL OF NEUROSCIENCE (2006)
Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration:: an animal model for spinal muscular atrophy type III
S Jablonka et al.
HUMAN MOLECULAR GENETICS (2000)