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Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 11, p. 4741, doi. 10.1007/s10072-021-05463-0
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- Publication type:
- Article
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.
- Published in:
- 2020
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- Publication type:
- journal article
Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation.
- Published in:
- 2019
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- Publication type:
- journal 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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- Publication type:
- 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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- Publication type:
- 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.
- Published in:
- 2020
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- Publication type:
- journal article
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
- Published in:
- 2016
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- Publication type:
- Letter
Pathways to motor incoordination: the inherited ataxias.
- Published in:
- Nature Reviews Neuroscience, 2004, v. 5, n. 8, p. 641, doi. 10.1038/nrn1474
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- Publication type:
- Article
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.
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- Journal of Clinical Medicine, 2020, v. 9, n. 2, p. 412, doi. 10.3390/jcm9020412
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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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- Publication type:
- 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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- Publication type:
- Article
Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 397, doi. 10.1002/ajmg.a.61973
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- Publication type:
- Article
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2277, doi. 10.1002/ajmg.a.61339
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- Publication type:
- Article
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.
- Published in:
- 2022
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- Publication type:
- Case Study
Is the Oxidant/Antioxidant Status Altered in CADASIL Patients?
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067077
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- Publication type:
- Article
Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy.
- Published in:
- 1998
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- Publication type:
- journal article
Spinocerebellar ataxia type 17 (SCA17): Oculomotor phenotype and clinical characterization of 15 Italian patients.
- Published in:
- Journal of Neurology, 2007, v. 254, n. 11, p. 1538, doi. 10.1007/s00415-007-0579-7
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- Publication type:
- Article
Age estimation by assessment of pulp chamber volume: a Bayesian network for the evaluation of dental evidence.
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- International Journal of Legal Medicine, 2018, v. 132, n. 4, p. 1125, doi. 10.1007/s00414-017-1733-0
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- Publication type:
- Article
Probabilistic graphical models to deal with age estimation of living persons.
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- International Journal of Legal Medicine, 2016, v. 130, n. 2, p. 475, doi. 10.1007/s00414-015-1173-7
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- Publication type:
- 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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- Publication type:
- 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
Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach.
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- Epilepsia Open, 2024, v. 9, n. 5, p. 1922, doi. 10.1002/epi4.13039
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- Publication type:
- Article
A Bayesian network approach to the database search problem in criminal proceedings.
- Published in:
- Investigative Genetics, 2012, v. 3, n. 1, p. 16, doi. 10.1186/2041-2223-3-16
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- Publication type:
- Article
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 7, p. 1907, doi. 10.1093/brain/awu121
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- Publication type:
- Article
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
- Published in:
- 2006
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- Publication type:
- journal article
Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 5, p. 1158, doi. 10.1002/acn3.51364
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
- Published in:
- 2020
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- Publication type:
- journal article
Deferiprone in Friedreich ataxia: A 6-Month randomized controlled trial.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 4, p. 509, doi. 10.1002/ana.24248
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- Publication type:
- Article
Paraoxonase gene mutations in amyotrophic lateral sclerosis.
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- Annals of Neurology, 2010, v. 68, n. 1, p. 102, doi. 10.1002/ana.21993
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.
- Published in:
- 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
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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- Publication type:
- Article
Bayes' factor: the coherent measure for hypothesis confirmation.
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- Law, Probability & Risk, 2021, v. 20, n. 1, p. 15, doi. 10.1093/lpr/mgab007
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- Publication type:
- Article
Coherently updating degrees of belief: Radical Probabilism, the generalization of Bayes' Theorem and its consequences on evidence evaluation.
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- Law, Probability & Risk, 2020, v. 19, n. 3/4, p. 293, doi. 10.1093/lpr/mgab001
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- Publication type:
- Article
A probabilistic account of the concept of cross-transfer and inferential interactions for trace materials.
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- Law, Probability & Risk, 2020, v. 19, n. 3/4, p. 221, doi. 10.1093/lpr/mgaa015
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- Publication type:
- Article
A formal approach to qualifying and quantifying the 'goodness' of forensic identification decisions.
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- Law, Probability & Risk, 2018, v. 17, n. 4, p. 295, doi. 10.1093/lpr/mgy016
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- Publication type:
- Article
Scientific evidence and the right to a fair trial under Article 6 ECHR.
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- Law, Probability & Risk, 2017, v. 16, n. 1, p. 55, doi. 10.1093/lpr/mgx001
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- Publication type:
- Article
Rejoinder.
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- Law, Probability & Risk, 2016, v. 15, n. 1, p. 31, doi. 10.1093/lpr/mgv007
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- Publication type:
- Article
Dismissal of the illusion of uncertainty in the assessment of a likelihood ratio.
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- Law, Probability & Risk, 2016, v. 15, n. 1, p. 1, doi. 10.1093/lpr/mgv008
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- Publication type:
- Article
Introduction.
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- Law, Probability & Risk, 2015, v. 14, n. 4, p. 267, doi. 10.1093/lpr/mgv018
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- Publication type:
- Article
The need for reporting standards in forensic science.
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- Law, Probability & Risk, 2015, v. 14, n. 2, p. 169, doi. 10.1093/lpr/mgv003
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- Publication type:
- Article
Liberties and constraints of the normative approach to evaluation and decision in forensic science: a discussion towards overcoming some common misconceptions.
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- Law, Probability & Risk, 2014, v. 13, n. 2, p. 181, doi. 10.1093/lpr/mgu009
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- Publication type:
- Article
Toxic substances in blood: an analysis of current recommendations under a Bayesian (decision) approach.
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- Law, Probability & Risk, 2014, v. 13, n. 1, p. 27, doi. 10.1093/lpr/mgt012
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- Publication type:
- Article
Evidential relevance in scene to offender transfer cases: development and analysis of a likelihood ratio for offence level propositions.
- Published in:
- Law, Probability & Risk, 2011, v. 10, n. 4, p. 277, doi. 10.1093/lpr/mgr008
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- Publication type:
- Article
Commentary: Likelihood Ratio as Weight of Forensic Evidence: A Closer Look.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00224
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- Publication type:
- Article