Works matching DE "MOTOR neuron diseases"
Results: 4169
Split hand phenomenon: An early marker for amyotrophic lateral sclerosis.
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- Revista Mexicana de Neurociencia, 2021, v. 22, n. 4, p. 141, doi. 10.24875/RMN.20000135
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- Article
Neuroestimulación para enfermedad de Parkinson con complicaciones motoras tempranas.
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- Revista Mexicana de Neurociencia, 2013, v. 14, n. 3, p. 107
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- Article
Página del Editor.
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- Revista Mexicana de Neurociencia, 2011, v. 12, n. 4, p. 169
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- Article
Detection of reduced dopamine transporter availability by <sup>123</sup>I‐N‐omega‐fluoropropyl‐2‐beta‐carbomethoxy‐3‐beta (4‐iodophenyl) nortropane single‐photon emission computed tomography in a patient of frontotemporal dementia with motor neuron disease
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- Psychogeriatrics, 2020, v. 20, n. 5, p. 799, doi. 10.1111/psyg.12584
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- Article
Clinical features of the behavioural variant of frontotemporal dementia that are useful for predicting underlying pathological subtypes of frontotemporal lobar degeneration.
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- Psychogeriatrics, 2018, v. 18, n. 4, p. 307, doi. 10.1111/psyg.12334
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- Article
Susac syndrome and multifocal motor neuropathy first manifesting in pregnancy.
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- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2013, v. 53, n. 3, p. 314, doi. 10.1111/ajo.12069
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- Article
Tapping Brain Waves.
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- Innovation, 2004, v. 4, n. 3, p. 62
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- Article
Differential calcium buffering in motoneuron populations that are selectively vulnerable and resistant in motoneuron disease.
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- 2000
- Publication type:
- Abstract
Disease specific human GlyR α1 subunit transgenic mice show a phenotype similar to hyperekplexia.
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- 2000
- Publication type:
- Abstract
Cortical T2 signal shortening in amyotrophic lateral sclerosis is not due to iron deposits.
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- Neuroradiology, 2005, v. 47, n. 11, p. 805, doi. 10.1007/s00234-005-1421-5
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- Article
The increasing importance of environmental conditions in amyotrophic lateral sclerosis.
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- International Journal of Biometeorology, 2018, v. 62, n. 8, p. 1361, doi. 10.1007/s00484-018-1550-2
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- Article
Neuropathological spectrum of anti-IgLON5 disease and stages of brainstem tau pathology: updated neuropathological research criteria of the disease-related tauopathy.
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- Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02805-y
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- Article
TDP-43 regulates LC3ylation in neural tissue through ATG4B cryptic splicing inhibition.
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- Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02780-4
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- Article
Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.
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- Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02794-y
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- Article
Alternatively spliced ELAVL3 cryptic exon 4a causes ELAVL3 downregulation in ALS TDP-43 proteinopathy.
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- Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-024-02732-y
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- Publication type:
- Article
G<sub>2</sub>C<sub>4</sub> targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons.
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- Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-023-02652-3
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- Article
Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy.
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- Acta Neuropathologica, 2023, v. 145, n. 5, p. 611, doi. 10.1007/s00401-023-02554-4
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- Article
More than a co-incidence? Comment on: Amyotrophic lateral sclerosis is over‐represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion.
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- Acta Neuropathologica, 2023, v. 145, n. 2, p. 257, doi. 10.1007/s00401-022-02517-1
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- Article
Widespread CNS pathology in amyotrophic lateral sclerosis homozygous for the D90A SOD1 mutation.
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- Acta Neuropathologica, 2023, v. 145, n. 1, p. 13, doi. 10.1007/s00401-022-02519-z
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- Article
The continuing legacy of John.
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- Acta Neuropathologica, 2022, v. 144, n. 6, p. 1063, doi. 10.1007/s00401-022-02514-4
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- Article
An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD.
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- Acta Neuropathologica, 2022, v. 144, n. 3, p. 437, doi. 10.1007/s00401-022-02470-z
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- Article
Increased pyroptosis activation in white matter microglia is associated with neuronal loss in ALS motor cortex.
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- Acta Neuropathologica, 2022, v. 144, n. 3, p. 393, doi. 10.1007/s00401-022-02466-9
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- Article
Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis.
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- Acta Neuropathologica, 2022, v. 144, n. 3, p. 413, doi. 10.1007/s00401-022-02450-3
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- Publication type:
- Article
Increased NF-L levels in the TDP-43<sup>G298S</sup> ALS mouse model resemble NF-L levels in ALS patients.
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- Acta Neuropathologica, 2022, v. 144, n. 1, p. 161, doi. 10.1007/s00401-022-02436-1
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- Article
John Q. Trojanowski: neuropathology icon.
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- 2022
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- Publication type:
- Editorial
Amyotrophic lateral sclerosis is over-represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion.
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- Acta Neuropathologica, 2022, v. 143, n. 1, p. 105, doi. 10.1007/s00401-021-02385-1
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- Article
Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis.
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- Acta Neuropathologica, 2021, v. 142, n. 6, p. 985, doi. 10.1007/s00401-021-02374-4
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- Article
TMEM106B modifies TDP-43 pathology in human ALS brain and cell-based models of TDP-43 proteinopathy.
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- Acta Neuropathologica, 2021, v. 142, n. 4, p. 629, doi. 10.1007/s00401-021-02330-2
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- Article
DDX17 is involved in DNA damage repair and modifies FUS toxicity in an RGG-domain dependent manner.
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- Acta Neuropathologica, 2021, v. 142, n. 3, p. 515, doi. 10.1007/s00401-021-02333-z
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- Article
TBK1 haploinsufficiency in ALS and FTD compromises membrane trafficking.
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- Acta Neuropathologica, 2021, v. 142, n. 1, p. 217, doi. 10.1007/s00401-021-02331-1
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- Article
Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis.
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- Acta Neuropathologica, 2021, v. 141, n. 2, p. 257, doi. 10.1007/s00401-020-02252-5
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- Article
Antibody against TDP-43 phosphorylated at serine 375 suggests conformational differences of TDP-43 aggregates among FTLD–TDP subtypes.
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- Acta Neuropathologica, 2020, v. 140, n. 5, p. 645, doi. 10.1007/s00401-020-02207-w
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- Article
Dipeptide repeat protein and TDP-43 pathology along the hypothalamic–pituitary axis in C9orf72 and non-C9orf72 ALS and FTLD-TDP cases.
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- Acta Neuropathologica, 2020, v. 140, n. 5, p. 777, doi. 10.1007/s00401-020-02216-9
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- Article
Synaptotagmin 13 is neuroprotective across motor neuron diseases.
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- Acta Neuropathologica, 2020, v. 139, n. 5, p. 837, doi. 10.1007/s00401-020-02133-x
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- Article
FUS pathology in ALS is linked to alterations in multiple ALS-associated proteins and rescued by drugs stimulating autophagy.
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- Acta Neuropathologica, 2019, v. 138, n. 1, p. 67, doi. 10.1007/s00401-019-01998-x
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- Article
ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response.
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- Acta Neuropathologica, 2019, v. 138, n. 1, p. 103, doi. 10.1007/s00401-019-01989-y
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- Article
Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10<sup>S59L/+</sup> mouse.
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- Acta Neuropathologica, 2019, v. 138, n. 1, p. 123, doi. 10.1007/s00401-019-01988-z
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- Article
Transcriptome-pathology correlation identifies interplay between TDP-43 and the expression of its kinase CK1E in sporadic ALS.
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- Acta Neuropathologica, 2018, v. 136, n. 3, p. 405, doi. 10.1007/s00401-018-1870-7
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- Article
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.
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- Acta Neuropathologica, 2018, v. 136, n. 3, p. 425, doi. 10.1007/s00401-018-1852-9
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- Article
Energy metabolism in ALS: an underappreciated opportunity?
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- Acta Neuropathologica, 2018, v. 135, n. 4, p. 489, doi. 10.1007/s00401-018-1835-x
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- Article
ALS/FTLD: experimental models and reality.
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- Acta Neuropathologica, 2017, v. 133, n. 2, p. 177, doi. 10.1007/s00401-016-1666-6
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- Publication type:
- Article
Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways.
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- Acta Neuropathologica, 2016, v. 132, n. 2, p. 175, doi. 10.1007/s00401-016-1575-8
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- Article
ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis.
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- Acta Neuropathologica, 2016, v. 132, n. 1, p. 111, doi. 10.1007/s00401-016-1554-0
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- Article
Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.
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- Acta Neuropathologica, 2015, v. 130, n. 6, p. 845, doi. 10.1007/s00401-015-1476-2
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- Article
Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.
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- Acta Neuropathologica, 2015, v. 130, n. 4, p. 559, doi. 10.1007/s00401-015-1474-4
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- Article
Pathogenic Ubqln2 gains toxic properties to induce neuron death.
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- Acta Neuropathologica, 2015, v. 129, n. 3, p. 417, doi. 10.1007/s00401-014-1367-y
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- Article
Experimental transmissibility of mutant SOD1 motor neuron disease.
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- Acta Neuropathologica, 2014, v. 128, n. 6, p. 791, doi. 10.1007/s00401-014-1342-7
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- Article
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.
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- Acta Neuropathologica, 2014, v. 128, n. 4, p. 525, doi. 10.1007/s00401-014-1286-y
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- Publication type:
- Article
Alzheimer disease and amyotrophic lateral sclerosis: an etiopathogenic connection.
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- Acta Neuropathologica, 2014, v. 127, n. 2, p. 243, doi. 10.1007/s00401-013-1175-9
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- Publication type:
- Article
<i>C9orf72</i> frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.
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- Acta Neuropathologica, 2013, v. 126, n. 6, p. 845, doi. 10.1007/s00401-013-1200-z
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- Publication type:
- Article