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Microglial derived extracellular vesicles activate autophagy and mediate multi‐target signaling to maintain cellular homeostasis.
- Published in:
- Journal of Extracellular Vesicles, 2020, v. 10, p. 1, doi. 10.1002/jev2.12022
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- Publication type:
- Article
Microglial derived extracellular vesicles activate autophagy and mediate multi‐target signaling to maintain cellular homeostasis.
- Published in:
- Journal of Extracellular Vesicles, 2020, v. 10, n. 1, p. 1, doi. 10.1002/jev2.12022
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- Publication type:
- Article
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-35908-3
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- Publication type:
- Article
Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies.
- Published in:
- Frontiers in Molecular Neuroscience, 2017, v. 10, p. 1, doi. 10.3389/fnmol.2017.00143
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- Publication type:
- Article
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2885, doi. 10.1093/brain/awac475
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- Publication type:
- Article
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
- Published in:
- 2022
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- Publication type:
- journal article
Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction.
- Published in:
- 2021
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- Publication type:
- journal article
Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.
- Published in:
- 2017
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- Publication type:
- journal article
Toll-like receptor expression in the peripheral nerve.
- Published in:
- Glia, 2010, v. 58, n. 14, p. 1701, doi. 10.1002/glia.21041
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- Publication type:
- Article
The Metabolic and Lipidomic Fingerprint of Torin1 Exposure in Mouse Embryonic Fibroblasts Using Untargeted Metabolomics.
- Published in:
- Metabolites (2218-1989), 2024, v. 14, n. 5, p. 248, doi. 10.3390/metabo14050248
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- Publication type:
- Article
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease.
- Published in:
- Nature Medicine, 2011, v. 17, n. 8, p. 968, doi. 10.1038/nm.2396
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- Publication type:
- Article
Anti-steroid takes aim at neuropathy.
- Published in:
- Nature Medicine, 2003, v. 9, n. 12, p. 1457, doi. 10.1038/nm1203-1457
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- Publication type:
- Article
A weakened interface in the P182L variant of HSP27 associated with severe Charcot‐Marie‐Tooth neuropathy causes aberrant binding to interacting proteins.
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- EMBO Journal, 2021, v. 40, n. 8, p. 1, doi. 10.15252/embj.2019103811
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- Publication type:
- Article
A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1399, doi. 10.1038/ng.2767
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- Publication type:
- Article
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
- Published in:
- Nature Genetics, 2009, v. 41, n. 11, p. 1179, doi. 10.1038/ng.464
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- Publication type:
- Article
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
- Published in:
- Nature Genetics, 2005, v. 37, n. 3, p. 289, doi. 10.1038/ng1514
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- Publication type:
- Article
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
- Published in:
- Nature Genetics, 2004, v. 36, n. 5, p. 449, doi. 10.1038/ng1341
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- Publication type:
- Article
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 3, p. 271, doi. 10.1038/ng1313
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- Publication type:
- Article
Of giant axons and curly hair.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 254, doi. 10.1038/81521
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- Publication type:
- Article
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.
- Published in:
- Experimental & Molecular Medicine EMM, 2024, v. 56, n. 6, p. 1348, doi. 10.1038/s12276-024-01250-x
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- Publication type:
- Article
Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-016-0407-3
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- Publication type:
- Article
HSPB1 Facilitates the Formation of Non-Centrosomal Microtubules.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066541
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- Publication type:
- Article
Genetics of motor neuron disease.
- Published in:
- Current Neurology & Neuroscience Reports, 2006, v. 6, n. 5, p. 423, doi. 10.1007/s11910-996-0024-9
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- Publication type:
- Article
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 7, p. 986, doi. 10.1007/s00415-008-0808-8
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- Publication type:
- Article
Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous.
- Published in:
- Journal of Neurology, 2001, v. 248, n. 10, p. 861
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- Publication type:
- Article
Construction of a PAC Contig within the Distal Hereditary Motor Neuropathy Type II Candidate Region at 12q24.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 463, doi. 10.1111/j.1749-6632.1999.tb08611.x
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- Publication type:
- Article
Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT.
- Published in:
- Amino Acids, 2012, v. 42, n. 5, p. 1661, doi. 10.1007/s00726-011-0868-4
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- Publication type:
- Article
The hnRNP family: insights into their role in health and disease.
- Published in:
- Human Genetics, 2016, v. 135, n. 8, p. 851, doi. 10.1007/s00439-016-1683-5
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- Publication type:
- Article
Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.
- Published in:
- Human Genetics, 2000, v. 106, n. 4, p. 432, doi. 10.1007/s004390000266
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- Publication type:
- Article
Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2010.75
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- Publication type:
- Article
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 646, doi. 10.1038/sj.ejhg.5200686
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- Publication type:
- Article
Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 920, doi. 10.1038/sj.ejhg.5200384
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- Publication type:
- Article
The CMT1A duplication: A historical perspective viewed from two sides of an ocean.
- Published in:
- Medizinische Genetik, 2020, p. 195, doi. 10.1515/medgen-2020-2030
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- Publication type:
- Article
The CMT1A duplication: A historical perspective viewed from two sides of an ocean.
- Published in:
- Medizinische Genetik, 2020, p. 195, doi. 10.1515/medgen-2020-2030
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- Publication type:
- Article
BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65664-z
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- Article
Molecular genetics, biology, and therapy for inherited peripheral neuropathies.
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- 2006
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- Publication type:
- Editorial
Unraveling the genetics of distal hereditary motor neuronopathies.
- Published in:
- NeuroMolecular Medicine, 2006, v. 8, n. 1/2, p. 131, doi. 10.1385/NMM:8:1-2:131
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- Publication type:
- Article
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 3, p. 683, doi. 10.1093/brain/awt357
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- Publication type:
- Article
Promising riboflavin treatment for motor neuron disorder.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 1, p. 2, doi. 10.1093/brain/awt342
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- Publication type:
- Article
Inherited peripheral neuropathies: a myriad of genes and complex phenotypes.
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- Brain: A Journal of Neurology, 2011, v. 134, n. 6, p. 1587, doi. 10.1093/brain/awr114
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- Publication type:
- Article
Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 10, p. 2699, doi. 10.1093/brain/awp198
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- Publication type:
- Article
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1741, doi. 10.1093/brain/awp115
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- Publication type:
- Article
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 9, p. 2124, doi. 10.1093/brain/awh232
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- Publication type:
- Article
Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
- Published in:
- Brain Pathology, 2024, v. 34, n. 1, p. 1, doi. 10.1111/bpa.13200
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- Publication type:
- Article
Charcot-Marie-Tooth Neuropathy Type 2 and P0 Point Mutations: Two Novel Amino Acid Substitutions (Asp61Gly; Tyr119Cys) and a Possible 'Hotspot' on Thr124Met.
- Published in:
- Brain Pathology, 2000, v. 10, n. 2, p. 235, doi. 10.1111/j.1750-3639.2000.tb00257.x
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- Publication type:
- Article
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
- Published in:
- 2016
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- Publication type:
- journal article
Animal models and therapeutic prospects for Charcot-Marie-Tooth disease.
- Published in:
- Annals of Neurology, 2013, v. 74, n. 3, p. 391, doi. 10.1002/ana.23987
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- Publication type:
- Article
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 2, p. 276
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- Publication type:
- Article
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
- Published in:
- Annals of Neurology, 2004, v. 55, n. 5, p. 713
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- Publication type:
- Article
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
- Published in:
- Annals of Neurology, 2002, v. 51, n. 6, p. 709, doi. 10.1002/ana.10213
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- Publication type:
- Article