Publications by authors named "Franco Taroni"

100Publications

Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease.

J Peripher Nerv Syst 2020 Aug 19. Epub 2020 Aug 19.

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1111/jns.12410DOI Listing
August 2020

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.

Forensic Sci Int Genet 2020 Sep 11;48:102334. Epub 2020 Jun 11.

School of Criminal Justice, Faculty of Law, Criminal Justice and Public Administration, University of Lausanne, Lausanne, Dorigny, Switzerland.

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http://dx.doi.org/10.1016/j.fsigen.2020.102334DOI Listing
September 2020

SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.

Parkinsonism Relat Disord 2020 05 2;74:1-5. Epub 2020 Apr 2.

IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.03.018DOI Listing
May 2020

Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.

J Clin Neurosci 2020 May 26;75:221-223. Epub 2020 Mar 26.

Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133 Milano, Italy; Neuroscience PhD Program, University of Milano-Bicocca, Monza, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2020.03.033DOI Listing
May 2020

Estimating the quantity of transferred DNA in primary and secondary transfers.

Sci Justice 2020 03 23;60(2):128-135. Epub 2019 Oct 23.

Faculty of Law, Criminal Justice and Public Administration, School of Criminal Justice, University of Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.scijus.2019.09.008DOI Listing
March 2020

Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.

Neurol Sci 2020 Jun 15;41(6):1475-1482. Epub 2020 Jan 15.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1007/s10072-019-04233-3DOI Listing
June 2020

A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects.

Neuropediatrics 2020 06 29;51(3):173-177. Epub 2019 Nov 29.

Department of Diagnostics and Applied Technology, Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS, Istituto Neurologico "C. Besta," Milan, Italy.

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http://dx.doi.org/10.1055/s-0039-3400985DOI Listing
June 2020

Bayesian networks and dissonant items of evidence: A case study.

Forensic Sci Int Genet 2020 01 10;44:102172. Epub 2019 Oct 10.

School of Criminal Justice, University of Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.fsigen.2019.102172DOI Listing
January 2020

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.

Am J Med Genet A 2019 11 22;179(11):2277-2283. Epub 2019 Aug 22.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61339DOI Listing
November 2019

Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy.

Neurology 2019 08 9;93(7):310-312. Epub 2019 Jul 9.

From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000007951DOI Listing
August 2019

The efficiency of DNA extraction kit and the efficiency of recovery techniques to release DNA using flow cytometry.

Sci Justice 2019 07 21;59(4):405-410. Epub 2019 Feb 21.

Faculty of Law, Criminal Justice and Public Administration, School of Criminal Justice, University of Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.scijus.2019.02.003DOI Listing
July 2019

Neuropsychological features of adult form of Alexander disease.

J Neurol Sci 2019 Jun 23;401:87-89. Epub 2019 Apr 23.

Neuropsychology Unit, Fondazione IRCCS Istituto Neurologico "C. Besta", Milan, Italy.

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http://dx.doi.org/10.1016/j.jns.2019.04.030DOI Listing
June 2019

Are Inconclusive Decisions in Forensic Science as Deficient as They Are Said to Be?

Front Psychol 2019 19;10:520. Epub 2019 Mar 19.

Faculty of Law, University of Fribourg, Fribourg, Switzerland.

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http://dx.doi.org/10.3389/fpsyg.2019.00520DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433742PMC
March 2019

A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.

J Peripher Nerv Syst 2019 06 28;24(2):219-223. Epub 2019 Mar 28.

Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples "Federico II", Naples, Italy.

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http://dx.doi.org/10.1111/jns.12314DOI Listing
June 2019

Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation.

Neurol Sci 2019 Jun 26;40(6):1267-1269. Epub 2019 Jan 26.

Neuroalgology Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Via Celoria, 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s10072-019-3716-zDOI Listing
June 2019

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.

J Forensic Sci 2019 01;64(1):318-321

Faculty of Law, Criminal Justice and Public Administration School of Criminal Justice, University of Lausanne, Lausanne-Dorigny, 1015, Switzerland.

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http://dx.doi.org/10.1111/1556-4029.13944DOI Listing
January 2019

Dynamic signatures: A review of dynamic feature variation and forensic methodology.

Forensic Sci Int 2018 Oct 29;291:216-229. Epub 2018 Aug 29.

School of Criminal Justice, University of Lausanne, Bâtiment BCH, Quartier Sorge, 1015 Lausanne-Dorigny, Vaud, Switzerland.

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https://linkinghub.elsevier.com/retrieve/pii/S03790738183063
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http://dx.doi.org/10.1016/j.forsciint.2018.08.021DOI Listing
October 2018

Commentary: Likelihood Ratio as Weight of Forensic Evidence: A Closer Look.

Front Genet 2018 22;9:224. Epub 2018 Jun 22.

School of Criminal Justice, Université de Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.3389/fgene.2018.00224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6036285PMC
June 2018

Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients.

Neurosci Lett 2018 06 30;678:37-42. Epub 2018 Apr 30.

Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS-Foundation Neurological Institute Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.neulet.2018.04.044DOI Listing
June 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Cortical thickness, stance control, and arithmetic skill: An exploratory study in premanifest Huntington disease.

Parkinsonism Relat Disord 2018 06 23;51:17-23. Epub 2018 Feb 23.

Genetics of Neurodegenerative and Metabolic Diseases, IRCCS-Foundation Neurological Institute Carlo Besta, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.02.033DOI Listing
June 2018

Bayesian networks of age estimation and classification based on dental evidence: A study on the third molar mineralization.

J Forensic Leg Med 2018 Apr 9;55:23-32. Epub 2018 Feb 9.

School of Criminal Justice, Building Batochime, University of Lausanne, 1015 Lausanne-Dorigny, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S1752928X183001
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http://dx.doi.org/10.1016/j.jflm.2018.02.005DOI Listing
April 2018

On the Bayesian approach to forensic age estimation of living individuals.

Forensic Sci Int 2017 Dec 11;281:e24-e29. Epub 2017 Nov 11.

University of Lausanne, School of Criminal Justice, Lausanne-Dorigny, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.forsciint.2017.11.007DOI Listing
December 2017

Age estimation by assessment of pulp chamber volume: a Bayesian network for the evaluation of dental evidence.

Int J Legal Med 2018 Jul 14;132(4):1125-1138. Epub 2017 Nov 14.

Section of Forensic Medical Sciences, Department of Health Sciences, University of Florence, Largo Brambilla 3, 50134, Florence, Italy.

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http://dx.doi.org/10.1007/s00414-017-1733-0DOI Listing
July 2018

CADASIL: Treatment and Management Options.

Curr Treat Options Neurol 2017 Sep;19(9):31

Cerebrovascular Unit, Carlo Besta Neurological Institute IRCCS Foundation, Via Celoria 23, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s11940-017-0468-zDOI Listing
September 2017

Towards a Bayesian evaluation of features in questioned handwritten signatures.

Sci Justice 2017 May 31;57(3):209-220. Epub 2017 Jan 31.

University of Lausanne, School of Criminal Justice, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.scijus.2017.01.004DOI Listing
May 2017

Evaluation of Forensic DNA Traces When Propositions of Interest Relate to Activities: Analysis and Discussion of Recurrent Concerns.

Front Genet 2016 12;7:215. Epub 2016 Dec 12.

Faculty of Law, Criminal Justice and Public Administration, School of Criminal Justice, University of Lausanne Lausanne, Switzerland.

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http://dx.doi.org/10.3389/fgene.2016.00215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149526PMC
December 2016

A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.

J Peripher Nerv Syst 2017 03;22(1):47-50

Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

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http://doi.wiley.com/10.1111/jns.12201
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http://dx.doi.org/10.1111/jns.12201DOI Listing
March 2017

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy.

J Peripher Nerv Syst 2017 03;22(1):59-63

Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1111/jns.12200DOI Listing
March 2017

Discussion on how to implement a verbal scale in a forensic laboratory: Benefits, pitfalls and suggestions to avoid misunderstandings.

Sci Justice 2016 Sep 27;56(5):364-370. Epub 2016 May 27.

School of Criminal Justice, University of Lausanne, 1015 Dorigny, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.scijus.2016.05.009DOI Listing
September 2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Nat Genet 2016 09 25;48(9):1037-42. Epub 2016 Jul 25.

Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560030PMC
September 2016

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Stroke 2016 07 31;47(7):1702-9. Epub 2016 May 31.

From the Department of Cerebrovascular Disease, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy (A.B., G.B.B., E.A.P., N.T.); Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (H.S.M.); Department of Bio-Medical Informatics, University of Pavia, Pavia, Italy (S.Q.); Department of Inherited Cardiovascular Disease, Foundation IRCCS Policlinico San Matteo, Pavia, Italy (E.A., M.G.); Neurology Unit, Department of Neuroscience and Sensory Organs, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy (S.L., L.C.); Neurology and Stroke Unit, Department of Urgency (G.M., A.C.), Department of Genetics (C.C., G.G.), and Brain MRI 3T Research Center (P.V.), IRCCS Foundation Casimiro Mondino Neurological Institute, Pavia, Italy; Department of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation C, Besta Neurological Institute, Milan, Italy (F.T., C.G., S.B.); Department of Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy (S.P., L.M.); Department of Genomics for Human Disease Diagnosis and Laboratory of Clinical Molecular Biology, IRCCS San Raffaele hospital, Milan, Italy (P.C., M.F.); University Vita-Salute, Milano, Italy (M.F.); Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy (S.C., D.R., G.P.C.); Neurology Unit, Department of Neuroscience and Sensory Organs, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan, Milan, Italy (S.C., D.R., G.P.C.); Department of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy (M.T.B.); Center for amyloidosis, Department of medical Thecnologies, IRCCS Foundation San Matteo Policlinico, Pavia, Italy (L.O., G.M.); Vascular Neurology - Spedali Civili, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy (A. Pezzini, A. Padovani); Stroke Unit, Departmen

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http://dx.doi.org/10.1161/STROKEAHA.115.012281DOI Listing
July 2016

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

J Peripher Nerv Syst 2016 09;21(3):142-9

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1111/jns.12175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592964PMC
September 2016

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

Brain 2016 08 19;139(Pt 8):e46. Epub 2016 May 19.

10 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany 11 German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany

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http://dx.doi.org/10.1093/brain/aww115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958896PMC
August 2016

MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 Diseases.

Invest Ophthalmol Vis Sci 2016 05;57(6):2714-20

Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS-Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1167/iovs.15-18732DOI Listing
May 2016

The salivary microbiome for differentiating individuals: proof of principle.

Microbes Infect 2016 06 8;18(6):399-405. Epub 2016 Apr 8.

Institute of Microbiology, Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.micinf.2016.03.011DOI Listing
June 2016

Stabbing simulations and DNA transfer.

Forensic Sci Int Genet 2016 May 6;22:73-80. Epub 2016 Feb 6.

School of Criminal Justice, University of Lausanne, 1015 Dorigny, Switzerland.

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http://dx.doi.org/10.1016/j.fsigen.2016.02.001DOI Listing
May 2016

The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease.

Clin Neurol Neurosurg 2016 Apr 4;143:1-3. Epub 2016 Feb 4.

Department of Neuroscience, University of Modena and Reggio Emilia and Nuovo Ospedale Civile S. Agostino-Estense di Modena, Via Pietro Giardini n. 1355, 41126 Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2016.01.032DOI Listing
April 2016

Probabilistic age classification with Bayesian networks: A study on the ossification status of the medial clavicular epiphysis.

Forensic Sci Int 2016 Jan 27;258:81-7. Epub 2015 Nov 27.

School of Criminal Justice, University of Lausanne, Building Batochime, 1015 Lausanne-Dorigny, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.forsciint.2015.11.010DOI Listing
January 2016

Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations.

J Peripher Nerv Syst 2015 Dec;20(4):380-6

Department of Clinical Neurosciences, Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1111/jns.12145DOI Listing
December 2015

Prediction in forensic science: a critical examination of common understandings.

Front Psychol 2015 2;6:737. Epub 2015 Jun 2.

Faculty of Law, Criminal Justice and Public Administration, School of Criminal Justice, University of Lausanne Lausanne, Switzerland.

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http://dx.doi.org/10.3389/fpsyg.2015.00737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451237PMC
June 2015

Probabilistic graphical models to deal with age estimation of living persons.

Int J Legal Med 2016 Mar 21;130(2):475-88. Epub 2015 Mar 21.

School of Criminal Justice, University of Lausanne, Building Batochime, 1015, Lausanne, Dorigny, Switzerland.

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http://dx.doi.org/10.1007/s00414-015-1173-7DOI Listing
March 2016

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.

J Forensic Sci 2015 Mar;60(2):539-41

Institut de Police Scientifique, École des Sciences Criminelles, University of Lausanne, Bâtiment Batochime, 1015, Lausanne-Dorigny, Switzerland.

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http://dx.doi.org/10.1111/1556-4029.12691DOI Listing
March 2015

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Am J Hum Genet 2014 Nov 30;95(5):590-601. Epub 2014 Oct 30.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225647PMC
November 2014

Somatosensory conduction pathway in spastic paraplegia type 5.

J Clin Neurol 2014 Oct 6;10(4):373-4. Epub 2014 Oct 6.

Genetics of Neurodegenerative and Metabolic Diseases Unit, IRCCS Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.3988/jcn.2014.10.4.373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198723PMC
October 2014

Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trial.

Stroke 2014 Oct 2;45(10):2959-66. Epub 2014 Sep 2.

From the CNR Institute of Clinical Physiology, CardioThoracic and Vascular Department, Niguarda Ca' Granda Hospital, Milan, Italy (R.D.M., J.C., M.P., O.P.); CNR Institute of Translational Pharmacology, Rome, Italy (M.F.); Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy (F.T., C.M., C.T.); Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy (A. Federico, M.T.D., M.L.S.); NEUROFARBA Department, Neuroscience Section, University of Florence, Florence, Italy (D.I., R.V.); Department of Epidemiology, IRCCS Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy (A.T., C.P.); Department of Neuroscience, Mental Health and Sensory Organs (NESMOS) and Center for Experimental Neurological Therapies, Sant'Andrea Hospital, University of Rome "La Sapienza", Rome, Italy (S.R., F.O.); Neurovascular Treatment Unit, University of Rome "La Sapienza" Rome, Italy (E.P., A. Francia); and Stroke Unit and Neurology, Azienda Ospedaliera Universitaria Careggi, Florence, Italy (L.P., F.P.).CNR Institute of Clinical Physiology, CardioThoracic and Vascular Department, Niguarda Ca' Granda HospitalCNR Institute of Clinical Physiology, CardioThoracic and Vascular Department, Niguarda Ca' Granda Hospital;Department of Medicine, Surgery and Neurosciences, University of Siena.

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http://dx.doi.org/10.1161/STROKEAHA.114.005937DOI Listing
October 2014

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation.

Neurology 2014 Sep 15;83(13):1217-8. Epub 2014 Aug 15.

From the Fondazione IRCCS Istituto Neurologico Carlo Besta (D.D.B., D.P., M.S., L.F., C.C., S.C., A.S., S.N., F.T., E.S.), Milan; University of Milan (S.B., N.B.); Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (S.B., N.B.), Milan; the Scientific Institute IRCCS E. Medea (N.B.), Bosisio Parini; and the Second University of Naples (G.T.), Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000812DOI Listing
September 2014

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

Ann Neurol 2014 Oct 30;76(4):509-21. Epub 2014 Aug 30.

Department of Neurology, Erasme Hospital, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1002/ana.24248DOI Listing
October 2014

On the use of the likelihood ratio for forensic evaluation: response to Fenton et al.

Sci Justice 2014 Jul 2;54(4):316-8. Epub 2014 May 2.

University of Edinburgh, School of Mathematics and Maxwell Institute, Edinburgh, EH9 3JZ, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.scijus.2014.04.001DOI Listing
July 2014

Frontal cortex BOLD signal changes in premanifest Huntington disease: a possible fMRI biomarker.

Neurology 2014 Jul 4;83(1):65-72. Epub 2014 Jun 4.

From the Neuroradiology Department (S.F., F.G., F.E., A.N., M.G.B., M.S., M.G.), Unit of Genetics of Neurodegenerative and Metabolic Diseases, Clinical Pathology and Medical Genetics (L.N., F.T., S.D., C.M.), and Health Department (S.P., N.B., F.G.), Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy; and the Memory and Aging Center (M.L.M.), Department of Neurology, University of California San Francisco.

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http://dx.doi.org/10.1212/WNL.0000000000000538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4114171PMC
July 2014

X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.

J Peripher Nerv Syst 2014 Jun;19(2):183-6

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1111/jns5.12070DOI Listing
June 2014

DNA, statistics and the law: a cross-disciplinary approach to forensic inference.

Front Genet 2014 15;5:136. Epub 2014 May 15.

Faculty of Law, Criminal Justice and Public Administration, School of Criminal Justice, Institute of Forensic Science, University of Lausanne Lausanne, Switzerland.

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http://dx.doi.org/10.3389/fgene.2014.00136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030133PMC
May 2014

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.

Parkinsonism Relat Disord 2014 Aug 26;20(8):919-23. Epub 2014 Apr 26.

Department of Neurology, Skåne University Hospital, Lund, Sweden; Department of Neurology, Clinical Sciences, Lund University, Lund, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2014.04.018DOI Listing
August 2014

Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.

Neurology 2014 Jun 9;82(23):2092-100. Epub 2014 May 9.

From the Neurogenetics Group, VIB-Department of Molecular Genetics (K.S., T.D., J.B., I.S., P.D.J.), and Laboratories of Neurogenetics and Neuropathology, Institute Born-Bunge (K.S., T.D., J.B., A.S., J.-J.M., P.D.J.), University of Antwerp; Departments of Neurology (K.S., J.B., J.-J.M., I.S., P.D.J.) and Radiology (W.V.H., P.M.P.), Antwerp University Hospital; Department of Neurology (A.S.), Ghent University Hospital, Belgium; Biocenter (S.W., E.R.), University of Cologne; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (S.W., E.R.), Cologne, Germany; Unit of Genetics of Neurodegenerative and Metabolic Diseases (F.T., D.D.B.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Icometrix (W.V.H., P.M.P.), Leuven; Department of Neurology (C.J.), AZ Nicolaas, Sint-Niklaas; Department of Neurology (R.D.P.), AZ Sint-Lucas, Gent; and Department of Neurology (F.C.), AZ Klina, Brasschaat, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000000491DOI Listing
June 2014

The role of prior probability in forensic assessments.

Front Genet 2013 28;4:220. Epub 2013 Oct 28.

Department of Criminology, Law and Society and School of Law, University of California, Irvine Irvine, CA, USA.

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http://dx.doi.org/10.3389/fgene.2013.00220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809556PMC
November 2013

On the value of probability for evaluating results of comparative pattern analyses.

Forensic Sci Int 2013 Oct 23;232(1-3):e44-5. Epub 2013 Aug 23.

University of Lausanne, Ecole des sciences criminelles, Institut de police scientifique, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.forsciint.2013.08.010DOI Listing
October 2013

Erythropoietin in Friedreich ataxia.

J Neurochem 2013 Aug;126 Suppl 1:80-7

Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS-Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1111/jnc.12301DOI Listing
August 2013

Is the oxidant/antioxidant status altered in CADASIL patients?

PLoS One 2013 14;8(6):e67077. Epub 2013 Jun 14.

Community Networking Resources Institute of Clinical Physiology, Cardiothoracic and Vascular Department, Niguarda Ca' Granda Hospital, Milan, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0067077PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3682996PMC
January 2014

Population genetic data for 23 STR markers from Lebanon.

Forensic Sci Int Genet 2013 Jul 21;7(4):e108-13. Epub 2013 May 21.

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http://dx.doi.org/10.1016/j.fsigen.2013.04.010DOI Listing
July 2013

Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant.

J Neurol 2013 Aug 17;260(8):2124-9. Epub 2013 May 17.

Medical Faculty, Clinic for Child Neurology and Psychiatry, University of Belgrade, 6A Dr. Subotica Street, Belgrade 11000, Serbia.

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http://dx.doi.org/10.1007/s00415-013-6958-3DOI Listing
August 2013

Whose DNA is this? How relevant a question? (a note for forensic scientists).

Forensic Sci Int Genet 2013 Jul 25;7(4):467-70. Epub 2013 Apr 25.

University of Lausanne, Ecole des sciences criminelles, Institut de police scientifique, Switzerland.

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http://dx.doi.org/10.1016/j.fsigen.2013.03.012DOI Listing
July 2013

The subjectivist interpretation of probability and the problem of individualisation in forensic science.

Sci Justice 2013 Jun 30;53(2):192-200. Epub 2013 Jan 30.

University of Lausanne, School of Criminal Justice, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.scijus.2013.01.003DOI Listing
June 2013

Estimating the time since discharge of spent cartridges: a logical approach for interpreting the evidence.

Sci Justice 2013 Mar 18;53(1):41-8. Epub 2012 Jan 18.

University of Lausanne, Lausanne-Dorigny, Switzerland.

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http://dx.doi.org/10.1016/j.scijus.2011.12.004DOI Listing
March 2013

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy.

J Peripher Nerv Syst 2012 Dec;17(4):422-5

Neuromuscular Diseases Unit, IRCCS Foundation, ‘‘Carlo Besta’’ Neurological Institute, Via Celoria, 11, 20133 Milan, Italy.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00443.xDOI Listing
December 2012

A Bayesian network approach to the database search problem in criminal proceedings.

Investig Genet 2012 Aug 1;3(1):16. Epub 2012 Aug 1.

School of Criminal Justice, Institute of Forensic Science, University of Lausanne, Lausanne, 1015, Switzerland.

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http://dx.doi.org/10.1186/2041-2223-3-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538676PMC
August 2012

The neurotoxicity of mutant proteins 20 years after the discovery of the first mutant gene involved in neurodegeneration. Foreword.

Prog Neurobiol 2012 May;97(2):53

Department of Endocrinology, Pathophysiology and Applied Biology, Universita' degli Studi di Milano, Italy.

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http://dx.doi.org/10.1016/j.pneurobio.2012.04.006DOI Listing
May 2012