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A Comparison of Low Read Depth QuantSeq 3′ Sequencing to Total RNA-Seq in FUS Mutant Mice.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.562445
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- Publication type:
- Article
impact of age on genetic testing decisions in amyotrophic lateral sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. 4440, doi. 10.1093/brain/awac279
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- Publication type:
- Article
TDP-43 mutations increase HNRNP A1-7B through gain of splicing function.
- Published in:
- 2018
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- Publication type:
- Letter
The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis.
- Published in:
- 2018
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- Publication type:
- journal article
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.
- Published in:
- 2017
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- Publication type:
- journal article
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
- Published in:
- 2017
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- Publication type:
- journal article
CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
- Published in:
- 2016
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- Publication type:
- Letter
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. 3171, doi. 10.1093/brain/awu292
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- Publication type:
- Article
Markers of cognitive resilience and a framework for investigating clinical heterogeneity in ALS<sup>†</sup>.
- Published in:
- Journal of Pathology, 2022, v. 257, n. 3, p. 251, doi. 10.1002/path.5897
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- Publication type:
- Article
Developing biomarkers of TDP‐43‐related splicing dysfunction in frontotemporal dementia.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.055170
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- Publication type:
- Article
The role of the RNA binding protein HnRNP K in the pathogenesis of frontotemporal lobar degeneration.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.052826
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- Publication type:
- Article
ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02538-8
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- Publication type:
- Article
Clinical Trials in Spinal and Bulbar Muscular Atrophy-Past, Present, and Future.
- Published in:
- Journal of Molecular Neuroscience, 2016, v. 58, n. 3, p. 379, doi. 10.1007/s12031-015-0682-7
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- Publication type:
- Article
Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.
- Published in:
- Journal of Molecular Neuroscience, 2016, v. 58, n. 3, p. 394, doi. 10.1007/s12031-015-0704-5
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- Publication type:
- Article
A Nonsense Mutation in Mouse <i>Tardbp</i> Affects TDP43 Alternative Splicing Activity and Causes Limb-Clasping and Body Tone Defects.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085962
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- Publication type:
- Article
An unusual presentation for SOD1-ALS: Isolated facial diplegia.
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- Muscle & Nerve, 2013, v. 48, n. 6, p. 994, doi. 10.1002/mus.23958
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- Publication type:
- Article
Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice.
- Published in:
- Journal of Neuroscience, 2006, v. 26, n. 8, p. 2358, doi. 10.1523/JNEUROSCI.3819-05.2006
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- Publication type:
- Article
Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
- Published in:
- EMBO Journal, 2018, v. 37, n. 11, p. 1, doi. 10.15252/embj.201798684
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- Publication type:
- Article
microRNA‐based predictor for diagnosis of frontotemporal dementia.
- Published in:
- Neuropathology & Applied Neurobiology, 2023, v. 49, n. 4, p. 1, doi. 10.1111/nan.12916
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- Publication type:
- Article
HnRNP K mislocalisation in neurons of the dentate nucleus is a novel neuropathological feature of neurodegenerative disease and ageing.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 4, p. 1, doi. 10.1111/nan.12793
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- Publication type:
- Article
Quantitative analysis of cryptic splicing associated with TDP-43 depletion.
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- BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0274-1
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- Publication type:
- Article
Is SOD1 loss of function involved in amyotrophic lateral sclerosis?
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 8, p. 2342, doi. 10.1093/brain/awt097
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- Publication type:
- Article
Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1763, doi. 10.1093/brain/awq111
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- Publication type:
- Article
Humoral response to neurofilaments and dipeptide repeats in ALS progression.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 9, p. 1831, doi. 10.1002/acn3.51428
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- Publication type:
- Article
NOS1AP is a novel molecular target and critical factor in TDP-43 pathology.
- Published in:
- Brain Communications, 2022, v. 4, n. 5, p. 1, doi. 10.1093/braincomms/fcac242
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- Publication type:
- Article
Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain.
- Published in:
- Brain Communications, 2022, v. 4, n. 1, p. 1, doi. 10.1093/braincomms/fcac029
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- Publication type:
- Article
SOD1 Function and Its Implications for Amyotrophic Lateral Sclerosis Pathology.
- Published in:
- Neuroscientist, 2015, v. 21, n. 5, p. 519, doi. 10.1177/1073858414561795
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- Publication type:
- Article
NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-91094-6
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- Publication type:
- Article
Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 13, p. 2282, doi. 10.1093/hmg/ddz037
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- Publication type:
- Article
Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1752, doi. 10.1093/hmg/ddz021
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- Publication type:
- Article
Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1260, doi. 10.1093/hmg/ddy420
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- Publication type:
- Article
A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 1, p. 124, doi. 10.1093/hmg/ddy336
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- Publication type:
- Article
Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 2, p. 291, doi. 10.1093/hmg/ddv471
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- Publication type:
- Article
A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 7, p. 1883, doi. 10.1093/hmg/ddu605
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- Publication type:
- Article
P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 11, p. 2081, doi. 10.1093/hmg/ddr081
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- Publication type:
- Article
Uses for humanised mouse models in precision medicine for neurodegenerative disease.
- Published in:
- Mammalian Genome, 2019, v. 30, n. 7/8, p. 173, doi. 10.1007/s00335-019-09807-2
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- Publication type:
- Article
SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments.
- Published in:
- Mammalian Genome, 2011, v. 22, n. 7/8, p. 420, doi. 10.1007/s00335-011-9339-1
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- Publication type:
- Article
RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS.
- Published in:
- Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-024-02705-1
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- Publication type:
- Article
Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions.
- Published in:
- Acta Neuropathologica, 2022, v. 143, n. 3, p. 383, doi. 10.1007/s00401-021-02399-9
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- Publication type:
- Article
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis.
- Published in:
- Acta Neuropathologica, 2022, v. 143, n. 6, p. 713, doi. 10.1007/s00401-022-02428-1
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- Publication type:
- Article
HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 4, p. 609, doi. 10.1007/s00401-021-02340-0
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- Publication type:
- Article
The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis.
- Published in:
- Acta Neuropathologica, 2020, v. 140, n. 5, p. 599, doi. 10.1007/s00401-020-02203-0
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- Publication type:
- Article
C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A.
- Published in:
- Acta Neuropathologica, 2019, v. 137, n. 3, p. 487, doi. 10.1007/s00401-018-1946-4
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- Publication type:
- Article
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.
- Published in:
- Acta Neuropathologica, 2015, v. 129, n. 5, p. 715, doi. 10.1007/s00401-015-1401-8
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- Publication type:
- Article
<i>C9orf72</i> frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 6, p. 845, doi. 10.1007/s00401-013-1200-z
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- Publication type:
- Article
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 3, p. 401, doi. 10.1007/s00401-013-1147-0
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- Publication type:
- Article
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
- Published in:
- Nature Neuroscience, 2014, v. 17, n. 5, p. 664, doi. 10.1038/nn.3688
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- Publication type:
- Article
The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
- Published in:
- Frontiers in Neuroscience, 2020, p. 1, doi. 10.3389/fnins.2020.00042
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- Publication type:
- Article
G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome.
- Published in:
- FEBS Letters, 2015, v. 589, n. 14, p. 1653, doi. 10.1016/j.febslet.2015.05.003
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- Publication type:
- Article
Opinion: more mouse models and more translation needed for ALS.
- Published in:
- Molecular Neurodegeneration, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13024-023-00619-2
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- Publication type:
- Article