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Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial.
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- Movement Disorders, 2012, v. 27, n. 3, p. 446, doi. 10.1002/mds.24066
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- Publication type:
- Article
Expanding the phenotypic spectrum of TRIM2‐associated Charcot‐Marie‐Tooth disease.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 4, p. 429, doi. 10.1111/jns.12410
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- Publication type:
- Article
A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene.
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- Journal of the Peripheral Nervous System, 2019, v. 24, n. 2, p. 219, doi. 10.1111/jns.12314
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- Article
Hereditary gelsolin amyloidosis ( HGA): a neglected cause of bilateral progressive or recurrent facial palsy.
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- Journal of the Peripheral Nervous System, 2017, v. 22, n. 1, p. 59, doi. 10.1111/jns.12200
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- Article
A novel NDRG1 mutation in a non-Romani patient with CMT4D/ HMSN-Lom.
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- Journal of the Peripheral Nervous System, 2017, v. 22, n. 1, p. 47, doi. 10.1111/jns.12201
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- Article
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
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- Journal of the Peripheral Nervous System, 2016, v. 21, n. 3, p. 142, doi. 10.1111/jns.12175
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- Publication type:
- Article
Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations.
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- Journal of the Peripheral Nervous System, 2015, v. 20, n. 4, p. 380, doi. 10.1111/jns.12145
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- Article
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
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- Cells (2073-4409), 2020, v. 9, n. 4, p. 1028, doi. 10.3390/cells9041028
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- Article
Glutamine Synthetase 1 Increases Autophagy Lysosomal Degradation of Mutant Huntingtin Aggregates in Neurons, Ameliorating Motility in a Drosophila Model for Huntington’s Disease.
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- Cells (2073-4409), 2020, v. 9, n. 1, p. 1, doi. 10.3390/cells9010196
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- Article
Erythropoietin in Friedreich ataxia.
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- Journal of Neurochemistry, 2013, v. 126, p. 80, doi. 10.1111/jnc.12301
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- Article
Pleiotropic effects of spastin on neurite growth depending on expression levels.
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- Journal of Neurochemistry, 2009, v. 108, n. 5, p. 1277, doi. 10.1111/j.1471-4159.2009.05875.x
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- Article
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
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- Neurogenetics, 2011, v. 12, n. 3, p. 193, doi. 10.1007/s10048-011-0281-x
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- Article
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.
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- Neurogenetics, 2008, v. 9, n. 1, p. 33, doi. 10.1007/s10048-007-0111-3
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- Article
Frataxin gene point mutations in Italian Friedreich ataxia patients.
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- Neurogenetics, 2007, v. 8, n. 4, p. 289, doi. 10.1007/s10048-007-0101-5
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- Publication type:
- Article
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia.
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- Human Molecular Genetics, 2009, v. 18, n. 1, p. 1
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- Article
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.
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- Human Molecular Genetics, 2005, v. 14, n. 24, p. 3787, doi. 10.1093/hmg/ddi393
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- Publication type:
- Article
Probabilistic evaluation of handwriting evidence: likelihood ratio for authorship.
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- Journal of the Royal Statistical Society: Series C (Applied Statistics), 2008, v. 57, n. 3, p. 329, doi. 10.1111/j.1467-9876.2007.00616.x
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- Article
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1887, doi. 10.1093/brain/awad436
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- Article
SREBP2 gene therapy targeting striatal astrocytes ameliorates Huntington's disease phenotypes.
- Published in:
- 2021
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- Publication type:
- journal article
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
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- 2020
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- Publication type:
- journal article
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
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- 2020
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- Publication type:
- journal article
Deferiprone in Friedreich ataxia: A 6-Month randomized controlled trial.
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- Annals of Neurology, 2014, v. 76, n. 4, p. 509, doi. 10.1002/ana.24248
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- Article
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
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- Nature, 2012, v. 488, n. 7412, p. 499, doi. 10.1038/nature11280
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- Article
Pathways to motor incoordination: the inherited ataxias.
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- Nature Reviews Neuroscience, 2004, v. 5, n. 8, p. 641, doi. 10.1038/nrn1474
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- Article
Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 5, p. 1158, doi. 10.1002/acn3.51364
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- Article
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 83, doi. 10.1002/acn3.50960
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- Article
Evaluation of Forensic DNA Traces When Propositions of Interest Relate to Activities: Analysis and Discussion of Recurrent Concerns.
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- Frontiers in Genetics, 2016, v. 7, p. 1, doi. 10.3389/fgene.2016.00215
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- Article
DNA, statistics and the law: a cross-disciplinary approach to forensic inference.
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- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00136
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- Publication type:
- Article
Striatal infusion of cholesterol promotes dose‐dependent behavioral benefits and exerts disease‐modifying effects in Huntington's disease mice.
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- EMBO Molecular Medicine, 2020, v. 12, n. 10, p. 1, doi. 10.15252/emmm.202012519
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- Article
Modeling the forensic two-trace problem with Bayesian networks.
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- Artificial Intelligence & Law, 2013, v. 21, n. 2, p. 221, doi. 10.1007/s10506-012-9136-5
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- Article
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children.
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- Applied Sciences (2076-3417), 2021, v. 11, n. 5, p. 2333, doi. 10.3390/app11052333
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- Article
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
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- Journal of Neurology, 2019, v. 266, n. 2, p. 378, doi. 10.1007/s00415-018-9141-z
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- Article
Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.
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- 2016
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- Publication type:
- Letter
Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant.
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- Journal of Neurology, 2013, v. 260, n. 8, p. 2124, doi. 10.1007/s00415-013-6958-3
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- Publication type:
- Article
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
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- Neurological Sciences, 2021, v. 42, n. 11, p. 4741, doi. 10.1007/s10072-021-05463-0
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- Article
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.
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- 2020
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- Publication type:
- journal article
Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation.
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- 2019
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- Publication type:
- journal article
Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons.
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- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-17954-3
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- Article
Is the Oxidant/Antioxidant Status Altered in CADASIL Patients?
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067077
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- Article
Evidence, probability and relative plausibility.
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- International Journal of Evidence & Proof, 2022, v. 26, n. 4, p. 309, doi. 10.1177/13657127221114508
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- Publication type:
- Article
Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers.
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- Cerebellum, 2022, v. 21, n. 1, p. 133, doi. 10.1007/s12311-021-01285-0
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- Article
Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.
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- Cerebellum, 2008, v. 7, n. 2, p. 184, doi. 10.1007/s12311-008-0053-9
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- Article
Letter to the Editor—Commentary on: Dror IG, Langenburg G. "Cannot decide": The Fine Line Between Appropriate Inconclusive Determinations Versus Unjustifiably Deciding not to Decide. J Forensic Sci https://doi.org/10.1111/1556-4029.13854. Epub 2018 Jul 5
- Published in:
- 2019
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- Publication type:
- Letter to the Editor
A Practical Guide for the Formulation of Propositions in the Bayesian Approach to DNA Evidence Interpretation in an Adversarial Environment.
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- Journal of Forensic Sciences, 2016, v. 61, n. 1, p. 186, doi. 10.1111/1556-4029.12907
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- Publication type:
- Article
Commentary on: Gauriot R, Gunaratnam L, Moroni R, Reinikainen T, Corander R. Statistical Challenges in the Quantification of Gunshot Residue Evidence. J Forensic Sci 2013;58(5);1149-55.
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- Journal of Forensic Sciences, 2015, v. 60, n. 2, p. 539, doi. 10.1111/1556-4029.12691
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- Publication type:
- Article
Bayesian Networks and the Value of the Evidence for the Forensic Two-Trace Transfer Problem* Bayesian Networks and the Value of the Evidence for the Forensic Two-Trace Transfer Problem.
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- Journal of Forensic Sciences, 2012, v. 57, n. 5, p. 1199, doi. 10.1111/j.1556-4029.2012.02127.x
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- Publication type:
- Article
Handwriting Evidence Evaluation Based on the Shape of Characters: Application of Multivariate Likelihood Ratios.
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- Journal of Forensic Sciences, 2011, v. 56, p. S238, doi. 10.1111/j.1556-4029.2010.01602.x
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- Publication type:
- Article
Value of DNA Tests: A Decision Perspective.
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- Journal of Forensic Sciences, 2007, v. 52, n. 1, p. 31, doi. 10.1111/j.1556-4029.2006.00302.x
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- Publication type:
- Article
Two Items of Evidence, No Putative Source: An Inference Problem in Forensic Intelligence.
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- Journal of Forensic Sciences, 2006, v. 51, n. 6, p. 1350, doi. 10.1111/j.1556-4029.2006.00272.x
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- Publication type:
- Article
Decision Analysis in Forensic Science.
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- Journal of Forensic Sciences, 2005, v. 50, n. 4, p. 894, doi. 10.1520/JFS2004443
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- Publication type:
- Article