Franco Taroni

Franco Taroni's AcademicInfluence.com Rankings

Franco Taroni

Criminal Justice

#188

World Rank

#214

Historical Rank

Forensic Science

#14

World Rank

#19

Historical Rank

criminal-justice Degrees

Franco Taroni

Mathematics

#7161

World Rank

#9789

Historical Rank

Statistics

#779

World Rank

#867

Historical Rank

Measure Theory

#1912

World Rank

#2328

Historical Rank

mathematics Degrees

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Criminal Justice
Mathematics

Franco Taroni's Degrees

PhD Forensic Science University of Milan
Masters Statistics University of Bologna

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Franco Taroni's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Statistics and the Evaluation of Evidence for Forensic Scientists (2004) (731)
The logic of decision (2014) (584)
Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis (2012) (547)
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. (1999) (380)
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 (2010) (290)
Statistics and the Evaluation of Evidence for Forensic Scientists: Aitken/Statistics and the Evaluation of Evidence for Forensic Scientists (2005) (249)
Bayesian Networks and Probabilistic Inference in Forensic Science (2006) (238)
The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder (2012) (213)
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis (2009) (210)
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis (2016) (195)
Pathways to motor incoordination: the inherited ataxias (2004) (183)
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients (1993) (182)
Alpha-lipoic acid prevents mitochondrial damage and neurotoxicity in experimental chemotherapy neuropathy (2008) (179)
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (2004) (147)
Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort (2009) (143)
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. (1992) (141)
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia. (2008) (137)
How the probability of a false positive affects the value of DNA evidence. (2003) (134)
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. (2014) (129)
A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference (2009) (125)
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. (2006) (123)
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. (2014) (121)
Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias (2014) (120)
Two-step Processing of Human Frataxin by Mitochondrial Processing Peptidase (2000) (116)
Data Analysis in Forensic Science: A Bayesian Decision Perspective (2010) (113)
Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion (1996) (112)
Yeast and Human Frataxin Are Processed to Mature Form in Two Sequential Steps by the Mitochondrial Processing Peptidase* (1999) (110)
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis (2008) (107)
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells. (2005) (104)
cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. (1991) (103)
Frataxin, iron-sulfur clusters, heme, ROS, and aging. (2006) (101)
Deferiprone in Friedreich ataxia: A 6‐Month randomized controlled trial (2014) (97)
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect (2012) (96)
A methodology for illicit heroin seizures comparison in a drug intelligence perspective using large databases. (2003) (93)
Bayesian Networks for Probabilistic Inference and Decision Analysis in Forensic Science (2014) (92)
Decision theoretic properties of forensic identification: underlying logic and argumentative implications. (2008) (90)
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. (1995) (89)
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia (2005) (88)
Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation (2000) (87)
Expressing evaluative opinions: a position statement (2011) (86)
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. (1996) (85)
Evaluation of scientific evidence using Bayesian networks. (2002) (84)
Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells. (2003) (84)
Pleiotropic effects of spastin on neurite growth depending on expression levels (2009) (83)
Frataxin expression rescues mitochondrial dysfunctions in FRDA cells. (2001) (83)
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. (2016) (80)
Bayesian networks for evaluating forensic DNA profiling evidence: a review and guide to literature. (2012) (79)
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations (2011) (79)
Dismissal of the illusion of uncertainty in the assessment of a likelihood ratio (2016) (78)
Phenotype and genotype variation in primary carnitine deficiency (2001) (78)
Frataxin gene point mutations in Italian Friedreich ataxia patients (2007) (75)
Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities (2009) (74)
Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia (2012) (74)
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype–phenotype correlation (2000) (73)
Paraoxonase gene mutations in amyotrophic lateral sclerosis (2010) (72)
A general approach to Bayesian networks for the interpretation of evidence. (2004) (69)
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. (2014) (68)
The salivary microbiome for differentiating individuals: proof of principle. (2016) (67)
Topical Review: Schizencephaly: Clinical Spectrum, Epilepsy, and Pathogenesis (2004) (63)
Charcot‐Marie‐Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families (2001) (63)
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (2020) (62)
Molecular and functional analysis of SLC25A20 mutations causing carnitine‐acylcarnitine translocase deficiency (2004) (62)
A neuropathological, stereo-EEG, and MRI study of subcortical band heterotopia (2003) (62)
Gene dosage effects in hereditary peripheral neuropathy (1997) (61)
De Finetti's subjectivism, the assessment of probabilities and the evaluation of evidence: a commentary for forensic scientists (2001) (60)
Bayesian networks and probabilistic reasoning about scientific evidence when there is a lack of data. (2006) (60)
Probabilistic evidential assessment of gunshot residue particle evidence (Part I): likelihood ratio calculation and case pre-assessment using Bayesian networks. (2009) (57)
Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial (2012) (57)
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations (2001) (55)
Probabilistic evaluation of handwriting evidence: likelihood ratio for authorship (2008) (55)
Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32. (1994) (55)
Sequence analysis, biogenesis, and mitochondrial import of the alpha-subunit of rat liver propionyl-CoA carboxylase. (1989) (55)
Hypoparathyroidism in mitochondrial trifunctional protein deficiency. (1996) (55)
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes (1998) (54)
Systemic carnitine deficiency due to lack of electron transfer flavoprotein (1986) (54)
Forerunners of Bayesianism in Early Forensic Science. (1999) (54)
Forensic evaluation of mtDNA in a population from south west Switzerland (2000) (53)
Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis (2008) (53)
Four novel cases of periaxin-related neuropathy and review of the literature (2010) (52)
Evaluation of preliminary isotopic analysis (13C and 15N) of explosives A likelihood ratio approach to assess the links between semtex samples. (2007) (52)
Spinocerebellar ataxia type 17 (SCA17): Oculomotor phenotype and clinical characterization of 15 Italian patients (2007) (52)
NMDA Receptor Composition Differs Among Anatomically Diverse Malformations of Cortical Development (2006) (52)
Decision analysis in forensic science. (2005) (51)
Discussion on how to implement a verbal scale in a forensic laboratory: Benefits, pitfalls and suggestions to avoid misunderstandings. (2016) (51)
Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene. (1996) (50)
A graphical model for the evaluation of cross-transfer evidence in DNA profiles. (2003) (49)
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript. (2007) (48)
Chemical profiling and classification of illicit heroin by principal component analysis, calculation of inter sample correlation and artificial neural networks. (2005) (47)
Inference about the number of contributors to a DNA mixture: Comparative analyses of a Bayesian network approach and the maximum allele count method. (2012) (47)
The evaluation of evidence in the forensic investigation of fire incidents (Part I): an approach using Bayesian networks. (2005) (47)
Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy. (1997) (47)
Stabbing simulations and DNA transfer. (2016) (45)
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients (2011) (45)
The subjectivist interpretation of probability and the problem of individualisation in forensic science. (2013) (45)
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations (2015) (43)
Reframing the debate: A question of probability, not of likelihood ratio. (2016) (41)
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. (2000) (41)
Glutamate dehydrogenase in olivopontocerebellar atrophies: leukocytes, fibroblasts, and muscle mitochondria (1986) (40)
Evaluation of Forensic DNA Traces When Propositions of Interest Relate to Activities: Analysis and Discussion of Recurrent Concerns (2016) (40)
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2020) (40)
Primary brain calcification: an international study reporting novel variants and associated phenotypes (2018) (39)
Probabilistic evidential assessment of gunshot residue particle evidence (Part II): Bayesian parameter estimation for experimental count data. (2011) (38)
The decisionalization of individualization. (2016) (37)
Whose DNA is this? How relevant a question? (a note for forensic scientists). (2013) (36)
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. (2016) (36)
Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation (2014) (36)
Evaluation of links in heroin seizures. (2003) (36)
Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies (1996) (36)
ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling (2012) (36)
Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy (1998) (35)
The importance of distinguishing information from evidence/observations when formulating propositions. (2015) (35)
The evaluation of evidence in the forensic investigation of fire incidents. Part II. Practical examples of the use of Bayesian networks. (2005) (35)
A Practical Guide for the Formulation of Propositions in the Bayesian Approach to DNA Evidence Interpretation in an Adversarial Environment (2016) (34)
Equal prior probabilities: can one do any better? (2007) (34)
Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients (2020) (33)
Sexual dimorphism of the human mandible: demonstration by elliptical Fourier analysis (2001) (33)
SCA 28 , a novel form of autosomal dominant cerebellar ataxia on chromosome 18 p 11 . 22 – q 11 . 2 (2005) (32)
Probabilistic reasoning in the law. Part 1: Assessment of probabilities and explanation of the value of DNA evidence. (1998) (32)
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria (1998) (32)
Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons (2020) (31)
A probabilistic approach to the joint evaluation of firearm evidence and gunshot residues. (2006) (31)
Inadequacies of posterior probabilities for the assessment of scientific evidence (2005) (31)
Rapid progression of late onset axonal Charcot–Marie–Tooth disease associated with a novel MPZ mutation in the extracellular domain (2007) (31)
Fumarate hydratase deficiency (1998) (29)
The precursor of the biotin-binding subunit of mammalian propionyl-CoA carboxylase can be translocated into mitochondria as apo- or holoprotein. (1991) (28)
Detection of nandrolone metabolites in urine after a football game in professional and amateur players: a Bayesian comparison. (2001) (27)
Bayesian framework for the evaluation of fibre transfer evidence. (1997) (27)
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021) (27)
Erythropoietin in Friedreich ataxia (2013) (27)
Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry (2016) (27)
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot‐Marie‐Tooth disease (CMT4) (2016) (27)
An investigation of the potential of DIP-STR markers for DNA mixture analyses. (2014) (27)
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (26)
Fatty acid mitochondrial beta-oxidation and hypoglycaemia in children. (1996) (26)
Handwriting Evidence Evaluation Based on the Shape of Characters: Application of Multivariate Likelihood Ratios *,† (2011) (26)
Quantification of the shape of handwritten characters: a step to objective discrimination between writers based on the study of the capital character O. (2005) (26)
Forensic identification of urine samples: a comparison between nuclear and mitochondrial DNA markers (2006) (25)
Expanding the spectrum of genes responsible for hereditary motor neuropathies (2019) (25)
Population genetic data for 23 STR markers from Lebanon. (2013) (25)
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A (2009) (25)
Estimating the time since discharge of spent cartridges: a logical approach for interpreting the evidence. (2013) (25)
Tunisian population data on 10 Y-chromosomal loci. (2003) (25)
Dynamic signatures: A review of dynamic feature variation and forensic methodology. (2018) (25)
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation (2018) (24)
Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A (2019) (24)
CADASIL: Treatment and Management Options (2017) (24)
Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28 (2014) (24)
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study (2014) (24)
Liberties and constraints of the normative approach to evaluation and decision in forensic science: a discussion towards overcoming some common misconceptions (2014) (24)
Use of DNA profiles for investigation using a simulated national DNA database: Part II. Statistical and ethical considerations on familial searching. (2010) (23)
The use of the likelihood ratio for evaluative and investigative purposes in comparative forensic handwriting examination. (2012) (23)
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature (2019) (23)
The consequences of understanding expert probability reporting as a decision. (2017) (23)
Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins? (2003) (22)
Facial nerve is liable to pressure palsy (1998) (22)
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy (2020) (22)
Statistical Classification of Abnormal Blood Profiles in Athletes (2006) (22)
Use of DNA profiles for investigation using a simulated national DNA database: Part I. Partial SGM Plus profiles. (2010) (22)
Evidence for two distinct mitochondrial malic enzymes in human skeletal muscle: purification and properties of the NAD(P)+-dependent enzyme. (1987) (21)
Topical Review: Schizencephaly: Clinical Spectrum, Epilepsy, and Pathogenesis (2004) (21)
Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborns: A molecular-genetic study (1994) (21)
Implementing statistical learning methods through Bayesian networks. Part 1: a guide to Bayesian parameter estimation using forensic science data. (2009) (21)
Altered TDP‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy (2018) (21)
The role of clinical and neuroimaging features in the diagnosis of CADASIL (2018) (21)
A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis (2014) (21)
Spinocerebellar ataxia type 1. (2012) (20)
X‐linked Charcot‐Marie‐Tooth type 1: stroke‐like presentation of a novel GJB1 mutation (2014) (20)
Two Items of Evidence, No Putative Source: An Inference Problem in Forensic Intelligence (2006) (20)
E-learning initiatives in forensic interpretation: report on experiences from current projects and outlook. (2013) (20)
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study (2020) (20)
Mutational mechanisms in MFN2‐related neuropathy: compound heterozygosity for recessive and semidominant mutations (2015) (19)
Probabilistic graphical models to deal with age estimation of living persons (2016) (19)
Implementing statistical learning methods through Bayesian networks (Part 2): Bayesian evaluations for results of black toner analyses in forensic document examination. (2011) (19)
Evaluation of a simplified method of the conduction system analysis in 110 forensic cases. (2002) (19)
Quantitative characterization of morphological polymorphism of handwritten characters loops. (2006) (19)
The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review (2016) (19)
Medium-chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment (1999) (18)
Insights into kinetics, release, and behavioral effects of brain-targeted hybrid nanoparticles for cholesterol delivery in Huntington’s disease (2020) (18)
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy. (2020) (18)
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b (2016) (18)
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 (2020) (18)
Decision-theoretic analysis of forensic sampling criteria using bayesian decision networks. (2012) (18)
Are Inconclusive Decisions in Forensic Science as Deficient as They Are Said to Be? (2019) (18)
The role of prior probability in forensic assessments (2013) (18)
Value of DNA Tests: A Decision Perspective (2007) (18)
Decision-theoretic reflections on processing a fingermark. (2013) (18)
Object-oriented Bayesian networks for evaluating DIP-STR profiling results from unbalanced DNA mixtures. (2014) (17)
Recent misconceptions about the 'database search problem': a probabilistic analysis using Bayesian networks. (2011) (17)
Impaired vasoreactivity in mildly disabled CADASIL patients (2011) (17)
Bayesian Networks and the Value of the Evidence for the Forensic Two‐Trace Transfer Problem * (2012) (17)
cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase. (1991) (17)
Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene (2011) (17)
Analysis of dyes in illicit pills (amphetamine and derivatives). (2004) (17)
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype (2018) (17)
Cortical thickness, stance control, and arithmetic skill: An exploratory study in premanifest Huntington disease. (2018) (17)
Evaluation and presentation of forensic DNA evidence in European laboratories. (2002) (17)
Thompson WC, Taroni F, Aitken CGG. How the probability of a false positive affects the value of DNA evidence. J Forensic Sci 2003;48(1):4754. (2004) (17)
Graphical probabilistic analysis of the combination of items of evidence (2012) (16)
Age estimation by assessment of pulp chamber volume: a Bayesian network for the evaluation of dental evidence (2017) (16)
Sensitivity of FRDA lymphoblasts to salts of transition metal ions. (2000) (16)
Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant (2013) (16)
Decision analysis for the genotype designation in low-template-DNA profiles. (2014) (16)
Probabilistic reasoning in the law. Part 2: Assessment of probabilities and explanation of the value of trace evidence other than DNA. (1998) (16)
Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL: A Randomized Controlled Trial (2014) (16)
Estimating the quantity of transferred DNA in primary and secondary transfers. (2020) (15)
Bayes factor for investigative assessment of selected handwriting features. (2014) (15)
Heterozygous Null Mutation in the P0 Gene Associated with Mild Charcot‐Marie‐Tooth Disease (1999) (15)
Statistical hypothesis testing and common misinterpretations: Should we abandon p-value in forensic science applications? (2016) (15)
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum (2019) (15)
Charcot-Marie-Tooth disease type 2 and P0 gene mutations. (1999) (15)
Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings (2016) (14)
The meaning of justified subjectivism and its role in the reconciliation of recent disagreements over forensic probabilism. (2017) (14)
Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene. (1993) (14)
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations (2019) (14)
Commentary: Likelihood Ratio as Weight of Forensic Evidence: A Closer Look (2018) (13)
Spinocerebellar ataxia type 28. (2012) (13)
Modeling the forensic two-trace problem with Bayesian networks (2013) (13)
The database search problem: a question of rational decision making. (2012) (13)
Learning about Bayesian networks for forensic interpretation: an example based on the 'the problem of multiple propositions'. (2012) (12)
Analysis of sampling issues using Bayesian networks (2007) (12)
Purification and properties of cytosolic malic enzyme from human skeletal muscle. (1988) (12)
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation (2020) (12)
Bayesian networks of age estimation and classification based on dental evidence: A study on the third molar mineralization. (2018) (12)
Analysing and exemplifying forensic conclusion criteria in terms of Bayesian decision theory. (2017) (12)
Different consequences of EGR2 mutants on the transactivation of human cx32 promoter (2003) (12)
Predictive Genetic Tests in Neurodegenerative Disorders: A Methodological Approach Integrating Psychological Counseling for At-Risk Individuals and Referring Clinicians (2010) (12)
Effect of diazoxide on Friedreich ataxia models (2018) (12)
Identification of 5' regulatory regions of the human carnitine palmitoyltransferase II gene. (1994) (11)
On the use of the likelihood ratio for forensic evaluation: response to Fenton et al. (2014) (11)
How to assign a likelihood ratio in a footwear mark case: an analysis and discussion in the light of R v T (2012) (11)
Reply to Budowle, Ge, Chakraborty and Gill-King: use of prior odds for missing persons identifications (2012) (11)
SREBP2 gene therapy targeting striatal astrocytes ameliorates Huntington's disease phenotypes. (2021) (11)
Electroencephalographic Recordings of Focal Seizures in Patients Affected by Periventricular Nodular Heterotopia: Role of the Heterotopic Nodules in the Genesis of Epileptic Discharges (2004) (11)
On the Bayesian approach to forensic age estimation of living individuals. (2017) (11)
Using graphical probability analysis (Bayes Nets) to evaluate a conditional DNA inclusion (2011) (11)
Fundamentals of Statistical Evidence—A Primer for Legal Professionals (2008) (11)
Preparation of yeast mitochondria and in vitro assay of respiratory chain complex activities (2010) (11)
Glutamine Synthetase 1 Increases Autophagy Lysosomal Degradation of Mutant Huntingtin Aggregates in Neurons, Ameliorating Motility in a Drosophila Model for Huntington’s Disease (2020) (11)
A formal approach to qualifying and quantifying the ‘goodness’ of forensic identification decisions (2018) (11)
Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells (1996) (11)
DNA evidence, probabilistic evaluation and collaborative tests. (2000) (10)
Frontal cortex BOLD signal changes in premanifest Huntington disease (2014) (10)
Critical analysis of forensic cut-offs and legal thresholds: A coherent approach to inference and decision. (2018) (10)
Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease. (1999) (10)
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study (2019) (10)
Reconciliation of subjective probabilities and frequencies in forensic science (2018) (10)
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency (2007) (10)
Bayesian classification criterion for forensic multivariate data. (2014) (10)
Statistical Adhockeries Are No Criteria for Legal Decisions—The Case of the Expert Medical Report on the Assessment of Urine Specimens Collected Among Athletes Having Participated to the Vancouver and Sochi Winter Olympic Games (2018) (9)
Probabilistic age classification with Bayesian networks: A study on the ossification status of the medial clavicular epiphysis. (2016) (9)
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis. (2014) (9)
Size influence on shape of handwritten characters loops. (2007) (9)
Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency (1996) (9)
Analysis and evaluation of magnetism of black toners on documents printed by electrophotographic systems. (2016) (9)
Identification concept and the use of probabilities in forensic odontology--an approach by philosophical discussion. (2000) (9)
Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients (2018) (8)
Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy (2017) (8)
Normative decision analysis in forensic science (2018) (8)
Bayesian Networks for the Age Classification of Living Individuals: A Study on Transition Analysis (2015) (8)
MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 Diseases. (2016) (8)
Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers (2021) (8)
Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy (2012) (8)
Uncertainty in forensic science : experts, probabilities and Bayes' theorem (2015) (8)
DNA, statistics and the law: a cross-disciplinary approach to forensic inference (2014) (8)
Striatal infusion of cholesterol promotes dose‐dependent behavioral benefits and exerts disease‐modifying effects in Huntington's disease mice (2020) (8)
A novel NDRG1 mutation in a non‐Romani patient with CMT4D/HMSN‐Lom (2017) (7)
Statistical Interpretation of Evidence: Bayesian Analysis (2013) (7)
PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature (2015) (7)
A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy (2009) (7)
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 (2015) (7)
More on the question 'When does absence of evidence constitute evidence of absence?' How Bayesian confirmation theory can logically support the answer. (2019) (7)
Uncertainty about the true source. A note on the likelihood ratio at the activity level. (2012) (7)
Clinical and molecular heterogeneity in carnitine-acylcarnitine translocase deficiency. (2000) (7)
Is the Oxidant/Antioxidant Status Altered in CADASIL Patients? (2013) (7)
Interpretation of Fibres Evidence - The Bayesian Approach. (1999) (7)
Probability and Inference in Forensic Science (2014) (7)
Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation. (1992) (7)
After uniqueness: the evolution of forensic science opinions (2018) (7)
Statistics and the Evaluation of Evidence for Forensic Scientists 3e (2020) (7)
Scientific evidence and the right to a fair trial under Article 6 ECHR (2017) (7)
Glutamate metabolism alterations in dominant OPCA (1984) (7)
The use of Bayesian Networks and simulation methods to identify the variables impacting the value of evidence assessed under activity level propositions in stabbing cases. (2020) (7)
Tunisian population data on 15 PCR-based loci. (2002) (6)
Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages (2020) (6)
Hypomyelinating leukodystrophies in adults: Clinical and genetic features (2020) (6)
The need for reporting standards in forensic science (2015) (6)
Clinical, electrophysiological and pathological findings in a patient with Charcot–Marie–Tooth disease 4D caused by the NDRG1 Lom mutation (2014) (6)
Minor or adult? Introducing decision analysis in forensic age estimation. (2020) (6)
Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization. (1992) (6)
A solution for the rare type match problem when using the DIP-STR marker system. (2017) (6)
Fingerprint evidence evaluation: is it really so different to other evidence types? (2000) (6)
implications for diagnosis and therapy . carnitine palmitoyltransferase deficiency : palmitoyltransferases in patients with a Characterisation of carnitine (2003) (6)
A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene (2019) (5)
2018 Peripheral Nerve Society Annual Meeting 21‐25 July, 2018 Baltimore, Maryland (2018) (5)
On the value of probability for evaluating results of comparative pattern analyses. (2013) (5)
Electroencephalographic Recordings of Focal Seizures in Patients Affected by Periventricular Nodular Heterotopia: Role of the Heterotopic Nodules in the Genesis of Epileptic Discharges (2004) (5)
Likelihood ratio as a relevant and logical approach to assess the value of shoeprint evidence. (2002) (5)
A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy (2007) (5)
The efficiency of DNA extraction kit and the efficiency of recovery techniques to release DNA using flow cytometry. (2019) (5)
Normal expression of myelin protein zero with frame‐shift mutation correlates with mild phenotype (2006) (5)
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease (2016) (5)
Towards a Bayesian evaluation of features in questioned handwritten signatures. (2017) (5)
Interpretation of scientific evidence. (1996) (5)
Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation (2019) (5)
Bayesian multivariate models for case assessment in dynamic signature cases. (2020) (4)
Statistics in Practice (2005) (4)
Age estimation of living persons: A coherent approach to inference and decision (2020) (4)
The neurotoxicity of mutant proteins 20 years after the discovery of the first mutant gene involved in neurodegeneration. Foreword. (2012) (4)
Novel and recurrent spastin mutations in a large series of SPG4 Italian families (2012) (4)
Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency (2001) (4)
Fibres evidence, probabilistic evaluation and collaborative test. (2000) (4)
PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies (1997) (4)
Pendular nystagmus in hypomyelinating leukodystrophy (2013) (4)
Disorders of Voluntary Muscle: Metabolic myopathies: Defects of carbohydrate and lipid metabolism (2010) (4)
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 (2019) (4)
Experimental design for acquiring relevant data to address the issue of comparing consecutively manufactured tools and firearms. (2008) (4)
Reply to Morrison et al. (2016) Refining the relevant population in forensic voice comparison - A response to Hicks et alii (2015) The importance of distinguishing information from evidence/observations when formulating propositions. (2017) (4)
The likelihood approach to compare populations: a study on DNA evidence and pitfalls of intuitions. (1999) (4)
A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects (2019) (4)
Evidential relevance in scene to offender transfer cases: development and analysis of a likelihood ratio for offence level propositions (2011) (4)
Fatty acid mitochondrial β-oxidation and hypoglycaemia in children (1996) (4)
Toxic substances in blood: an analysis of current recommendations under a Bayesian (decision) approach (2014) (4)
Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy (2019) (4)
Inference Problems in Forensic Science (2008) (3)
Autosomal Dominant Spinocerebellar Ataxias and Episodic Ataxias (2021) (3)
Problematic reporting in DNA cases: the need for accredited formats and certified reporting competence (2019) (3)
Early white matter involvement in an infant carrying a novel mutation in ACOX1. (2016) (3)
DNAJB2‐related Charcot‐Marie‐Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening (2022) (3)
Supporting interdisciplinary case studies: development and implementation of a joint learning environment for students in forensic science and criminal law (2014) (3)
Neuropsychological features of adult form of Alexander disease (2019) (3)
Quantitative assessment of handwriting evidence: The value of the shape of the letter "a" (2011) (3)
Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature (2020) (3)
Prediction in forensic science: a critical examination of common understandings (2015) (3)
Serial crime: a consideration of investigative problems (1994) (3)
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature (2022) (3)
Reply to Hamer: The R v T controversy: forensic evidence, law and logic (2012) (3)
Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations (2021) (3)
Bayesian networks and dissonant items of evidence: A case study. (2019) (3)
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population (2020) (3)
The importance of having a logical framework for expert conclusions in forensic DNA profiling: illustrations from the Amanda Knox case (2013) (3)
The Logic of Uncertainty (2006) (3)
After Uniqueness : The Evolution of Forensic-Science (2018) (2)
Hereditary leukoencephalopathies and demyelinating neuropathies in children (2004) (2)
[Sexual assault: could the perpetrators not be identified more often?]. (1993) (2)
The role of the gynaecologist in the diagnosis and management of child sexual abuse (1995) (2)
Sexual crimes: the importance of forensic investigation (1995) (2)
Uncertainty in Forensic Science (2005) (2)
A simple logical approach to questioned envelopes examination. (2005) (2)
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (2020) (2)
Bayesian Networks for Evaluating Scientific Evidence (2006) (2)
Molecular Pathogenesis of Mitochondrial Diseases (1995) (2)
A generalised Bayes' factor formula for evidence evaluation under activity level propositions: Variations around a fibres scenario. (2021) (2)
A Bayesian network approach to the database search problem in criminal proceedings (2012) (2)
Genetic peopling of Pakistan: Influence of consanguinity on population structure and forensic evaluation of traces (2019) (2)
Tunisian population allele frequencies for 15 PCR-based loci (2003) (2)
Production of polyclonal antibodies against protein antigens purified by electroelution from SDS-polyacrylamide gel (2010) (2)
Triplet repeat diseases: from basic to clinical aspects (2001) (2)
A probabilistic account of the concept of cross-transfer and inferential interactions for trace materials (2020) (1)
Disorders of lipid metabolism (2020) (1)
Mitochondrial diseases. (1994) (1)
Influence of gender and pregnancy on CMT1A (2004) (1)
Recurrent facial palsy in HNPP (1997) (1)
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment (2022) (1)
The Logic of Bayesian Networks (2006) (1)
A probabilistic approach to evaluate salivary microbiome in forensic science (2021) (1)
Probabilistic evaluation of n traces with no putative source: A likelihood ratio based approach in an investigative framework. (2016) (1)
Bayesian decision networks (2014) (1)
Primary brain calcification: an international study reporting novel variants and associated phenotypes (2018) (1)
Somatosensory Conduction Pathway in Spastic Paraplegia Type 5 (2014) (1)
A probabilistic approach to the evaluation of fibre evidence (2018) (1)
Decision Theory (2020) (1)
Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout (2020) (1)
Forensic medicine, PCR, and Bayesian approach. (1994) (1)
Evidence, probability and relative plausibility (2022) (1)
Glutamine Synthetase-1 induces autophagy-lysosomal degradation of huntingtin aggregates and ameliorates animal motility in a Drosophila model for Huntington’s disease (2019) (1)
Expanding the phenotypic spectrum of TRIM2‐associated Charcot‐Marie‐Tooth disease (2020) (1)
Law, Probability and Risk (2002) (1)
B35 Glutamine synthetase-1 induces autophagy and neuronal survival in a drosophila model huntington’s disease (2016) (1)
Analysis and Evaluation of Magnetism of Black Toners on Documents Printed by Electrophotographic Systems (2016) (1)
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype (2021) (1)
Interpretation of Fibre Evidence (2017) (1)
Coherently updating degrees of belief: Radical Probabilism, the generalization of Bayes’ Theorem and its consequences on evidence evaluation (2020) (1)
Evaluation of scientific findings in forensic science (2014) (0)
I06 SREBP2 delivery to striatal astrocytes normalizes transcription of cholesterol biosynthesis genes and ameliorates pathological features in huntington’s disease (2021) (0)
Variable severity of early onset CMT2 with compound heterozygous Mitofusin 2 mutations (2010) (0)
Bayesian networks and the evaluation of scientific evidence: a theoretical approach. (2001) (0)
The History of Forensic Inference and Statistics: A Thematic Perspective (2020) (0)
Evaluation given activity level propositions (2014) (0)
CASE REPORT Fumarate hydratase de—ciency (1998) (0)
Networks for continuous models (2014) (0)
Evaluation given crime level propositions (2014) (0)
PREDOMINANTLY MOTOR CMT2B ASSOCIATED WITH A NOVEL PATHOGENIC RAB7 MUTATION (2017) (0)
Aspects of combining evidence (2014) (0)
Reframing the Debate: A Question of Probability, Not of Likelihood Ratio (2016) (0)
The Logic of Inference and Decision for Scientific Evidence (2021) (0)
Hereditary leukodystrophy with spheroids (HLDS) and Nasu-Hakola disease (NHD): Reports of seven Italian cases to highlight key diagnostic features (2021) (0)
Letter to the Editor Fibres evidence, probabilistic evaluation and collaborative test (2000) (0)
The eNOS gene polymorphisms ( exon 894 G / T , promoter-786 T / C , and intron G 10 T ) in migraine cases of a Turkish population (2014) (0)
An unusual cosegregation of cmt1a duplication and hnpp PMP22 point mutation in a family with CMT1 disease (2004) (0)
Analysing complex inference problems in forensic science using Bayesian networks: The example of the two-trace transfer problem (2010) (0)
WITHDRAWN: Rethinking forensic individualization as a decision (2017) (0)
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY (2016) (0)
Object‐oriented networks (2014) (0)
Concepts of Statistical Science and Decision Theory (2010) (0)
PS-20-2 Neurophysiological phenotypic expression of hereditary neuropathy with liability to pressure palsies patients with 17p11.2–12 deletion (1995) (0)
Computational Normative Decision Support Structures of Forensic Interpretation in the Legal Process (2020) (0)
SOD1 Gene mutations in Italian Amyotrophic Lateral Sclerosis Patients (2007) (0)
Qualitative and Sensitivity Analyses (2006) (0)
E25 Fmri Signal Changes In Frontal Cortex Correlates With Years-to-disease-onset In A Group Of Young Premanifest Huntington Disease Subjects (2014) (0)
Taxonomic membership in great apes: a probabilistic approach from mandibular morphology (2007) (0)
Evaluation of DNA profiling results (2014) (0)
The evaluation of handwriting evidence: multi-level models for determining authorship (2010) (0)
CMT1A Associated With The 17p11.2 Duplication: Differential Features And Correlation (2001) (0)
Normative decision analysis in forensic science (2018) (0)
Scientific Reasoning and Decision Making (2010) (0)
Bayesian Forensic Data Analysis: Conclusions and Implications (2010) (0)
Forensic Statistics in the Courtroom (2020) (0)
P60 Variable severity of early onset CMT2 with compound heterozygous MFN2 mutations (2010) (0)
Evaluation given source level propositions (2014) (0)
Qualitative, sensitivity and conflict analyses (2014) (0)
HUMFIBRA IN SOUTH WEST SWITZERLAND (1999) (0)
Glutamine synthetase induces autophagy and neuronal survival in a Drosophila model of Huntington’s Disea (2016) (0)
ATYPICAL DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE AND MYELIN GENE MUTATIONS (2000) (0)
Bayesian inference in forensic intelligence (2005) (0)
Targeted Multigene Sequencing Panels Enable Fast, Cost-Effective Variant Discovery (2017) (0)
AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role for the mitochondrial m-AAA protease complex in the cerebellum (2009) (0)
Expression and mitochondrial localisation of frataxin, the Friedreich's ataxia gene product (1997) (0)
The Bayes’ factor: the coherent measure for hypothesis conﬁrmation (2021) (0)
I16 Very slow disease progression in two hd patients carrying 40 and 45 cag repeats: a 10-year follow-up observational report (2016) (0)
The evaluation of evidence in forensic science based on multivariate likelihood ratio (2007) (0)
Appendix A: Discrete Distributions (2010) (0)
Aspects of the Combination of Evidence (2006) (0)
Measuring Uncertainty in Forensic Science (2021) (0)
DNA transfer when using gloves in burglary simulations. (2022) (0)
Bayes Factors for Forensic Decision Analyses with R (2022) (0)
How to assess the number of contributors to a DNA mixture: a Bayesian approach (2013) (0)
STIMATING THE TIME SINCE DISCHARGE OF SPENT CARTRIDGES : A LOGICAL APPROACH FOR INTERPRETING THE EVIDENCE 7 December 2011 (2013) (0)
Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias (2013) (0)
Evaluation of evidence in forensic science: a multivariate Bayesian approach (2006) (0)
Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 76 (2003) (0)
G07 Differences between Huntington's disease and spinocerebellar ataxia types 1 and 2 on cognitive and behavioural profile (2010) (0)
3-Methylglutaconic Aciduria Type I (2022) (0)
Posterior likelihood ratios for evaluation of forensic trace evidence given a two-level model on the data by Alberink et al. (2013) (2016) (0)
Index of authors, volume 64, 2015 (2015) (0)
Friedreich ataxia in patients with FXN p.R165P point mutation. (2012) (0)
deficiency: implications for diagnosis and therapy (2003) (0)
INCREASED CSF PROTEINS IN CMT1A: ROLE OF ROOT HYPERTROPHY OR SUPERIMPOSED CIDP? (2002) (0)
G08 An italian study to estimate the frequency of the intermediate triplet length in the huntingtin gene: 1/20 subject carries an allele with 27–35 cag (2018) (0)
P32 - High frequency of SH3TC2 mutations in early-onset CMT4 (2015) (0)
Kennedy's disease: clinical and molecular study of two Italian families (1995) (0)
Identification of FUS/TLS gene mutation in a cohort of Italian FALS patients (2009) (0)
Author Index (1966) (0)
Erratum: Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization (Genomics (1992) 13:4 (1372-1374)) (1994) (0)
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions solves the enigma of SCA17 and SCA48 incomplete penetrance (2021) (0)
MUTATIONS IN HSPB8 CAUSING AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY AND MYOFIBRILLAR MYOPATHY: REPORT OF A NOVEL FAMILY (2016) (0)
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children (2021) (0)
Glutamate dehydrogenase in OPCA (1987) (0)
Molecular analysis of the litaf/simple and prx genes in patients with demyelinating charcot‐marie‐tooth (CMT) disease (2004) (0)
Complex Ataxia‐Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia (2023) (0)
ALS Genes: mutational analysis in a large cohort of Italian patients (2009) (0)
Modeling the forensic two-trace problem with Bayesian networks (2012) (0)
Glutamine synthetase-1 ameliorates neuronal degeneration in a Drosophila model of Huntington's Disease by promoting autophagy (2016) (0)
Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene. (2022) (0)
5-48-01 A new variant of Charcot-Marie-Tooth neuropathy? (1997) (0)
Chronic cholesterol administration to the brain supports complete and long-lasting cognitive and motor amelioration in Huntington’s disease (2023) (0)
Evaluation of Scientific Evidence (2006) (0)
Classification of Observations (2010) (0)
TDP43-DEPENDENT ALTERATION OF RNA METABOLISM IN HSPB8-RELATED AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY AND MYOFIBRILLAR MYOPATHY: A FAMILY STUDY (2016) (0)
PMP22 Mutations In DÉJÈRine‐Sottas Disease: A Mutational “Hot Spot” On Codon 72 (2001) (0)
Data related to article "RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum" (2021) (0)
Ataxias and Cerebellar Degenerations (2015) (0)
Appendix B: Continuous Distributions (2010) (0)
Very mild Charcot-Marie-Tooth disease in patients heterozygous for a loss-of-function mutation in the Po gene (1998) (0)
Anatomical localisation of frataxin mRNA and protein: in situ hybridization and immunocytochemical analysis (1997) (0)
I17 Sustained benefits of brain-permeable cholesterol-loaded nanoparticles in zQ175DN mouse model (2022) (0)
List of contributors. (2019) (0)
A NOVEL PATHOGENIC RAB7 MUTATION CAUSING PREDOMINANTLY MOTOR CMT2B (2016) (0)
The logic of Bayesian networks and influence diagrams (2014) (0)
Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 86 (2003) (0)
SREBP2 delivery to striatal astrocytes normalizes transcription of cholesterol biosynthesis genes and ameliorates pathological features in Huntington’s Disease (2020) (0)
A Randomized Controlled Trial Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With (2014) (0)
A novel founder mutation in the MFN 2 gene associated with variable Charcot – (2007) (0)
MITOCHONDRIAL DNA TESTING IN SWITZERLAND 30 MONTHS OF EXPERIENCE WITH FORENSIC CASEWORK (2001) (0)
Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers (2021) (0)
4-48-06 Clinical features of hereditary neuropathy with liability to pressure palsies associated with chromosome 17p abnormalities (1997) (0)
Commentary on: Bottrell MC, Webb JB. Review of: Forensic Interpretation of Glass Evidence. J Forensic SCI 2002;47(4):926-7 (2003) (0)
F6 Does premanifest HD perform worse in arithmetic? Symbol digit and calculation tests confirm early cognitive impairment in preHD and correlate with brain MRI abnormalities (2016) (0)
1-48-08 Recurrent facial palsy in HNPP (1997) (0)
Corrigendum to "A probabilistic approach to evaluate salivary microbiome in forensic science when the defense says: 'It is my twin brother'" [Forensic Sci. Int. Genet. 57, 102638]. (2022) (0)
CMTX: heterozygosity for a GJB1/CX32 mutation in a XXY male results in a mild phenotype (2004) (0)
The role of probabilities in graphical models. (2012) (0)

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University of Lausanne
University of Milan
University of Siena
University of Padua
University of Zurich
University of Bologna

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