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Further insights into anti-IgLON5 disease: a case with complex clinical presentation.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Unleashing the potential of mRNA therapeutics for inherited neurological diseases.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 9, p. 2934, doi. 10.1093/brain/awae135
- By:
- Publication type:
- Article
Cytogenetic mapping of a novel locus for type II Waardenburg syndrome.
- Published in:
- Human Genetics, 2002, v. 110, n. 1, p. 64, doi. 10.1007/s00439-001-0643-9
- By:
- Publication type:
- Article
TDP-43 is recruited to stress granules in conditions of oxidative insult.
- Published in:
- Journal of Neurochemistry, 2009, v. 111, n. 4, p. 1051, doi. 10.1111/j.1471-4159.2009.06383.x
- By:
- Publication type:
- Article
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.
- Published in:
- Neurogenetics, 2008, v. 9, n. 1, p. 33, doi. 10.1007/s10048-007-0111-3
- By:
- Publication type:
- Article
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 8, p. 2220
- By:
- Publication type:
- Article
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.
- Published in:
- Science Translational Medicine, 2022, v. 14, n. 633, p. 1, doi. 10.1126/scitranslmed.abj0264
- By:
- Publication type:
- Article
Genetic variability in sporadic amyotrophic lateral sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3760, doi. 10.1093/brain/awad120
- By:
- Publication type:
- Article
Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9276, doi. 10.3390/ijms23169276
- By:
- Publication type:
- Article
Inter-Species Differences in Regulation of the Progranulin–Sortilin Axis in TDP-43 Cell Models of Neurodegeneration.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 23, p. 5866, doi. 10.3390/ijms20235866
- By:
- Publication type:
- Article
Shaping the Neurovascular Unit Exploiting Human Brain Organoids.
- Published in:
- Molecular Neurobiology, 2024, v. 61, n. 9, p. 6642, doi. 10.1007/s12035-024-03998-9
- By:
- Publication type:
- Article
SUMOylation Regulates TDP-43 Splicing Activity and Nucleocytoplasmic Distribution.
- Published in:
- Molecular Neurobiology, 2021, v. 58, n. 11, p. 5682, doi. 10.1007/s12035-021-02505-8
- By:
- Publication type:
- Article
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0316-5
- By:
- Publication type:
- Article
Dysregulation of axonal transport and motorneuron diseases.
- Published in:
- Biology of the Cell (Wiley-Blackwell), 2011, v. 103, n. 2, p. 87, doi. 10.1042/BC20100093
- By:
- Publication type:
- Article
CSF Aβ<sub>40</sub> and P-Tau<sub>181</sub> Might Differentiate Atypical from Typical AD Phenotypes: Preliminary Evidence.
- Published in:
- Neurodegenerative Diseases, 2022, v. 22, n. 2, p. 83, doi. 10.1159/000526888
- By:
- Publication type:
- Article
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2.
- Published in:
- Neurodegenerative Diseases, 2018, v. 18, n. 1, p. 38, doi. 10.1159/000486201
- By:
- Publication type:
- Article
The oligogenic model of amyotrophic lateral sclerosis; phenotypes of three Tunisian families.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 6, p. 555, doi. 10.1111/cge.14205
- By:
- Publication type:
- Article
Dendritic targeting of short and long 3' UTR BDNF mRNA is regulated by BDNF or NT-3 and distinct sets of RNA-binding proteins.
- Published in:
- Frontiers in Molecular Neuroscience, 2015, v. 8, p. 1, doi. 10.3389/fnmol.2015.00062
- By:
- Publication type:
- Article
Correction to: Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 2, p. 898, doi. 10.1007/s00415-022-11433-z
- By:
- Publication type:
- Article
Serum neurofilament light chain levels in Covid-19 patients without major neurological manifestations.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 11, p. 5691, doi. 10.1007/s00415-022-11233-5
- By:
- Publication type:
- Article
Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 1, p. 85, doi. 10.1007/s00415-012-6589-0
- By:
- Publication type:
- Article
Phosphorylated tau in plasma could be a biomarker of lower motor neuron impairment in amyotrophic lateral sclerosis.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 10, p. 3697, doi. 10.1007/s10072-023-06916-4
- By:
- Publication type:
- Article
Influence of kidney function and CSF/serum albumin ratio on plasma Aβ42 and Aβ40 levels measured on a fully automated platform in patients with Alzheimer's disease.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 9, p. 3287, doi. 10.1007/s10072-023-06882-x
- By:
- Publication type:
- Article
Lower semantic fluency scores and a phonemic-over-semantic advantage predict abnormal CSF P-tau<sub>181</sub> levels in Aβ + patients within the Alzheimer's disease clinical spectrum.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 6, p. 1979, doi. 10.1007/s10072-023-06643-w
- By:
- Publication type:
- Article
Relationship between cerebrospinal fluid/serum albumin quotient and phenotype in amyotrophic lateral sclerosis: a retrospective study on 328 patients.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 5, p. 1679, doi. 10.1007/s10072-023-06604-3
- By:
- Publication type:
- Article
Cerebrospinal fluid/serum albumin quotient (Q-Alb) is not increased in Alzheimer's disease compared to neurological disease controls: a retrospective study on 276 patients.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 2, p. 709, doi. 10.1007/s10072-022-06530-w
- By:
- Publication type:
- Article
A + T ± status across MCI and dementia due to AD: a clinic-based, retrospective study.
- Published in:
- 2022
- By:
- Publication type:
- journal article
PON1 is a disease modifier gene in amyotrophic lateral sclerosis: association of the Q192R polymorphism with bulbar onset and reduced survival.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Serum levels of glial fibrillary acidic protein in patients with amyotrophic lateral sclerosis.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 1, p. 118, doi. 10.1002/acn3.51708
- By:
- Publication type:
- Article
The Frontal Assessment Battery (FAB) effectively discriminates between MCI and dementia within the clinical spectrum of neurochemically confirmed Alzheimer’s disease.
- Published in:
- Frontiers in Psychology, 2022, v. 13, p. 1, doi. 10.3389/fpsyg.2022.1054321
- By:
- Publication type:
- Article
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study.
- Published in:
- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1169689
- By:
- Publication type:
- Article
Analysis of miRNA rare variants in amyotrophic lateral sclerosis and in silico prediction of their biological effects.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1055313
- By:
- Publication type:
- Article
Association of the risk factor UNC13A with survival and upper motor neuron involvement in amyotrophic lateral sclerosis.
- Published in:
- Frontiers in Aging Neuroscience, 2023, v. 15, p. 1, doi. 10.3389/fnagi.2023.1067954
- By:
- Publication type:
- Article
TARDBP mutations in a cohort of Italian patients with Parkinson’s disease and atypical parkinsonisms.
- Published in:
- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.1020948
- By:
- Publication type:
- Article
Parkinsonian Syndromes in Motor Neuron Disease: A Clinical Study.
- Published in:
- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.917706
- By:
- Publication type:
- Article
Human motor neurons derived from induced pluripotent stem cells are susceptible to SARS-CoV-2 infection.
- Published in:
- Frontiers in Cellular Neuroscience, 2023, p. 1, doi. 10.3389/fncel.2023.1285836
- By:
- Publication type:
- Article
SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.
- Published in:
- Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab236
- By:
- Publication type:
- Article
Physiological functions and pathobiology of TDP-43 and FUS/ TLS proteins.
- Published in:
- Journal of Neurochemistry, 2016, v. 138, p. 95, doi. 10.1111/jnc.13625
- By:
- Publication type:
- Article
The 3' untranslated region of human Cyclin-Dependent Kinase 5Regulatory subunit 1 contains regulatory elements affectingtranscript stability.
- Published in:
- BMC Molecular Biology, 2007, v. 8, p. 111, doi. 10.1186/1471-2199-8-111
- By:
- Publication type:
- Article
Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid Samples.
- Published in:
- Biomedicines, 2023, v. 11, n. 5, p. 1254, doi. 10.3390/biomedicines11051254
- By:
- Publication type:
- Article
Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-11837-y
- By:
- Publication type:
- Article
Screening of Thyrotropin Receptor Mutations by Fine-Needle Aspiration Biopsy in Autonomous Functioning Thyroid Nodules in Multinodular Goiters.
- Published in:
- Thyroid, 1999, v. 9, n. 4, p. 353, doi. 10.1089/thy.1999.9.353
- By:
- Publication type:
- Article
Phenotypic correlates of serum neurofilament light chain levels in amyotrophic lateral sclerosis.
- Published in:
- Frontiers in Aging Neuroscience, 2023, v. 15, p. 1, doi. 10.3389/fnagi.2023.1132808
- By:
- Publication type:
- Article
Reprogramming fibroblasts and peripheral blood cells from a C9ORF72 patient: A proof‐of‐principle study.
- Published in:
- Journal of Cellular & Molecular Medicine, 2020, v. 24, n. 7, p. 4051, doi. 10.1111/jcmm.15048
- By:
- Publication type:
- Article
Paraoxonase gene mutations in amyotrophic lateral sclerosis.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 1, p. 102, doi. 10.1002/ana.21993
- By:
- Publication type:
- Article
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 7, p. 812, doi. 10.1001/jamaneurol.2016.1114
- By:
- Publication type:
- Article
UFD1L, a Developmentally Expressed Ubiquitination Gene, is Deleted in CATCH 22 Syndrome.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 2, p. 259, doi. 10.1093/hmg/6.2.259
- By:
- Publication type:
- Article
cDNA Characterization and Chromosomal Mapping of Two Human Homologues of the Drosophila Dishevelled Polarity Gene.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 7, p. 953, doi. 10.1093/hmg/5.7.953
- By:
- Publication type:
- Article