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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
Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.
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- Human Genetics, 2000, v. 106, n. 4, p. 432, doi. 10.1007/s004390000266
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- Publication type:
- Article
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-35908-3
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- Publication type:
- Article
Small Heat-Shock Protein HSPB1 Mutants Stabilize Microtubules in Charcot-Marie-Tooth Neuropathy.
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- Journal of Neuroscience, 2011, v. 31, n. 43, p. 15320, doi. 10.1523/JNEUROSCI.3266-11.2011
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- Publication type:
- Article
Nlrp6 promotes recovery after peripheral nerve injury independently of inflammasomes.
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- Journal of Neuroinflammation, 2015, v. 12, n. 1, p. 1, doi. 10.1186/s12974-015-0367-8
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- Publication type:
- Article
Acute injury in the peripheral nervous system triggers an alternative macrophage response.
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- Journal of Neuroinflammation, 2012, v. 9, n. 1, p. 176, doi. 10.1186/1742-2094-9-176
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- Publication type:
- Article
L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype.
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- Neurogenetics, 2010, v. 11, n. 3, p. 357, doi. 10.1007/s10048-010-0237-6
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- Publication type:
- Article
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.
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- Neurogenetics, 2009, v. 10, n. 2, p. 135, doi. 10.1007/s10048-008-0168-7
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- Publication type:
- Article
Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.
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- Neurogenetics, 2009, v. 10, n. 2, p. 161, doi. 10.1007/s10048-008-0165-x
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- Publication type:
- Article
Mutant HSPB8 causes motor neuron-specific neurite degeneration.
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- Human Molecular Genetics, 2010, v. 19, n. 16, p. 3254, doi. 10.1093/hmg/ddq234
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- Publication type:
- Article
Molecular genetics of distal hereditary motor neuropathies.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 2, p. r195, doi. 10.1093/hmg/ddh226
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- Publication type:
- Article
Molecular genetics of distal hereditary motor neuropathies.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. suppl_2, p. R195, doi. 10.1093/hmg/ddh226
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- Publication type:
- Article
The CMT1A duplication: A historical perspective viewed from two sides of an ocean.
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- 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.
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- Medizinische Genetik, 2020, p. 195, doi. 10.1515/medgen-2020-2030
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- Publication type:
- Article
Genetics of motor neuron disease.
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- 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
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2885, doi. 10.1093/brain/awac475
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- Article
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
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- 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.
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- 2021
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- Publication type:
- journal article
Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.
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- 2017
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- Publication type:
- journal article
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
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- 2016
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- Publication type:
- journal article
Animal models and therapeutic prospects for Charcot-Marie-Tooth disease.
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- Annals of Neurology, 2013, v. 74, n. 3, p. 391, doi. 10.1002/ana.23987
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- Publication type:
- Article
Small heat shock proteins in neurodegenerative diseases.
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- Cell Stress & Chaperones, 2020, v. 25, n. 4, p. 679, doi. 10.1007/s12192-020-01101-4
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- Publication type:
- Article
Small heat shock proteins: multifaceted proteins with important implications for life.
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- Cell Stress & Chaperones, 2019, v. 24, n. 2, p. 295, doi. 10.1007/s12192-019-00979-z
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- Publication type:
- Article
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.
- Published in:
- Acta Neuropathologica, 2018, v. 135, n. 1, p. 131, doi. 10.1007/s00401-017-1756-0
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- Publication type:
- Article
Mitochondria-associated membranes as hubs for neurodegeneration.
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- Acta Neuropathologica, 2016, v. 131, n. 4, p. 505, doi. 10.1007/s00401-015-1528-7
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- Publication type:
- Article
Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments.
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- Acta Neuropathologica, 2013, v. 126, n. 1, p. 93, doi. 10.1007/s00401-013-1133-6
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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.
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- 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
A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
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- 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.
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- 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.
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- 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.
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- 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.
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- Nature Genetics, 2004, v. 36, n. 3, p. 271, doi. 10.1038/ng1313
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- Publication type:
- Article
Oligodendroglia-derived extracellular vesicles activate autophagy via LC3B/BAG3 to protect against oxidative stress with an enhanced effect for HSPB8 enriched vesicles.
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- Cell Communication & Signaling, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12964-022-00863-x
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- Publication type:
- Article
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.
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- Genes, 2014, v. 5, n. 1, p. 13, doi. 10.3390/genes5010013
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- Article
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
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- Journal of Neurology, 2014, v. 261, n. 5, p. 970, doi. 10.1007/s00415-014-7289-8
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- Publication type:
- Article
Microglial derived extracellular vesicles activate autophagy and mediate multi‐target signaling to maintain cellular homeostasis.
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- Journal of Extracellular Vesicles, 2020, v. 10, p. 1, doi. 10.1002/jev2.12022
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- Article
Microglial derived extracellular vesicles activate autophagy and mediate multi‐target signaling to maintain cellular homeostasis.
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- Journal of Extracellular Vesicles, 2020, v. 10, n. 1, p. 1, doi. 10.1002/jev2.12022
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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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- Publication type:
- Article
HSPB1 Facilitates the Formation of Non-Centrosomal Microtubules.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066541
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- Article
Of giant axons and curly hair.
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- Nature Genetics, 2000, v. 26, n. 3, p. 254, doi. 10.1038/81521
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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
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
Molecular genetics, biology, and therapy for inherited peripheral neuropathies.
- Published in:
- 2006
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- Publication type:
- Editorial
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
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
Neurofilament phosphorylation and their proline-directed kinases in health and disease.
- Published in:
- Journal of the Peripheral Nervous System, 2012, v. 17, n. 4, p. 365, doi. 10.1111/j.1529-8027.2012.00434.x
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- Publication type:
- Article
Increased axonal ribosome numbers in CMT diseases.
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- Journal of the Peripheral Nervous System, 2011, v. 16, n. 1, p. 71, doi. 10.1111/j.1529-8027.2011.00322.x
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- Publication type:
- Article
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.
- Published in:
- Journal of the Peripheral Nervous System, 2002, v. 7, n. 2, p. 87, doi. 10.1046/j.1529-8027.2002.02014.x
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- Publication type:
- Article