Publications by authors named "Carlo Nobile"

46Publications

Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation.

Epileptic Disord 2020 Aug;22(4):443-448

CNR-Neuroscience Institute, Section of Padua, Padova, Italy, Department of Biomedical Sciences, University of Padua, Padova, Italy.

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http://dx.doi.org/10.1684/epd.2020.1176DOI Listing
August 2020

Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsy.

Neurol Genet 2018 Jun 11;4(3):e241. Epub 2018 Jun 11.

Pediatric Neurology and Muscular Diseases Unit (P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova; and CNR-Neuroscience Institute and Department of Biomedical Sciences (C.N.), University of Padua, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999347PMC
June 2018

The genetic basis of juvenile myoclonic epilepsy.

Lancet Neurol 2018 06;17(6):493-495

Consiglio Nazionale delle Ricerche Neuroscience Institute and Department of Biomedical Sciences, University of Padua, Padova, Italy.

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http://dx.doi.org/10.1016/S1474-4422(18)30173-XDOI Listing
June 2018

LGI1 tumor tissue expression and serum autoantibodies in patients with primary malignant glioma.

Clin Neurol Neurosurg 2018 07 14;170:27-33. Epub 2018 Apr 14.

CNR-Neuroscience Institute, Section of Padua, Viale G. Colombo 3, 35121 Padova, Italy; Department of Biomedical Sciences, University of Padua, Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2018.04.010DOI Listing
July 2018

Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy.

Ann Neurol 2018 03 13;83(3):483-493. Epub 2018 Mar 13.

CNR-Neuroscience Institute, Section of Padua, Padova, Italy.

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http://dx.doi.org/10.1002/ana.25167DOI Listing
March 2018

CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.

Epilepsy Res 2018 01 21;139:51-53. Epub 2017 Nov 21.

CNR-Neuroscience Institute, Section of Padua, Padova, Italy; Department of Biomedical Sciences, University of Padua, Padova, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09201211173044
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http://dx.doi.org/10.1016/j.eplepsyres.2017.11.006DOI Listing
January 2018

In response: DEPDC5 mutations in epilepsy with auditory features.

Epilepsia 2016 Feb;57(2):336; discussion 336-7

Section of Padua, CNR-Neuroscience Institute, Padova, Italy.

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http://dx.doi.org/10.1111/epi.13255DOI Listing
February 2016

DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.

Epilepsia 2015 Oct 27;56(10):e168-71. Epub 2015 Jul 27.

CNR-Neuroscience Institute, Section of Padua, Padova, Italy.

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http://dx.doi.org/10.1111/epi.13094DOI Listing
October 2015

Galanin pathogenic mutations in temporal lobe epilepsy.

Hum Mol Genet 2015 Jun 17;24(11):3082-91. Epub 2015 Feb 17.

Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddv060DOI Listing
June 2015

PRRT2: a major cause of infantile epilepsy and other paroxysmal disorders of childhood.

Prog Brain Res 2014 ;213:141-58

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy.

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http://dx.doi.org/10.1016/B978-0-444-63326-2.00008-9DOI Listing
April 2015

Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26.

Epilepsy Res 2014 Feb 18;108(2):232-40. Epub 2013 Nov 18.

CNR - Institute of Neurosciences, Section of Padua, Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2013.11.002DOI Listing
February 2014

Autosomal dominant essential tremor: a novel family with anticipation.

Neurol Sci 2013 May 13;34(5):761-3. Epub 2012 Oct 13.

Unit of Neurology, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Via Altura, 3, 40139 Bologna, Italy.

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http://dx.doi.org/10.1007/s10072-012-1216-5DOI Listing
May 2013

Genetics of epilepsy and relevance to current practice.

Curr Neurol Neurosci Rep 2012 Aug;12(4):445-55

Unit of Neurology, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Via Altura 3, 40139, Bologna, Italy.

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http://dx.doi.org/10.1007/s11910-012-0281-8DOI Listing
August 2012

A PTG variant contributes to a milder phenotype in Lafora disease.

PLoS One 2011 30;6(6):e21294. Epub 2011 Jun 30.

Laboratorio de Neurología-Unidad de Epilepsia, Servicio de Neurología, Instituto Investigación Sanitaria Fundación Jiménez Díaz, and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

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http://digital.csic.es/bitstream/10261/37651/1/Plos%20One%20
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http://dx.plos.org/10.1371/journal.pone.0021294
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0021294PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3127956PMC
December 2011

Idiopathic mesial temporal lobe epilepsy: don't sow the tares with the wheat!

Epilepsy Behav 2010 Aug 9;18(4):500-1. Epub 2010 Jun 9.

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http://dx.doi.org/10.1016/j.yebeh.2010.04.044DOI Listing
August 2010

Distribution of the epilepsy-related Lgi1 protein in rat cortical neurons.

Histochem Cell Biol 2009 Nov;132(5):505-13

Dipartimento di Scienze Morfologico-Biomediche, Sezione di Anatomia e Istologia, Università di Verona, Verona, Italy.

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http://dx.doi.org/10.1007/s00418-009-0637-6DOI Listing
November 2009

Lateral temporal lobe epilepsies: clinical and genetic features.

Epilepsia 2009 May;50 Suppl 5:52-4

Department of Neurosciences, Ospedale Bellaria, Bologna, Italy.

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http://doi.wiley.com/10.1111/j.1528-1167.2009.02122.x
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http://dx.doi.org/10.1111/j.1528-1167.2009.02122.xDOI Listing
May 2009

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

Hum Mutat 2009 Apr;30(4):530-6

Istituto di Neuroscienze del CNR, Sezione di Padova, Dipartimento di Scienze Biomediche Sperimentali, Università di Padova, Padova, Italy.

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http://dx.doi.org/10.1002/humu.20925DOI Listing
April 2009

The LGI1/epitempin gene encodes two protein isoforms differentially expressed in human brain.

J Neurochem 2006 Aug 19;98(3):985-91. Epub 2006 Jun 19.

CNR-Istituto di Neuroscienze, Sezione di Padova, Dipartimento di Scienze Biomediche Sperimentali, Università di Padova, Padua, Italy.

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http://dx.doi.org/10.1111/j.1471-4159.2006.03939.xDOI Listing
August 2006

Partial epilepsy with prominent auditory symptoms not linked to chromosome 10q.

Epileptic Disord 2002 Sep;4(3):183-7

Neurological Institute, University of Bologna, Italy.

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September 2002

The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders.

Trends Biochem Sci 2002 Sep;27(9):441-4

metaGen Pharmaceuticals GmbH, Oudenarder Strasse 16, D-13347 Berlin, Germany.

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http://dx.doi.org/10.1016/s0968-0004(02)02163-1DOI Listing
September 2002

Analysis of 22 deletion breakpoints in dystrophin intron 49.

Hum Genet 2002 May 9;110(5):418-21. Epub 2002 Apr 9.

CNR-Centro di Studio per la Biologia e Fisiopatologia Muscolare, c/o Dipartimento di Scienze Biomediche Sperimentali, Università di Padova, 35121 Padua, Italy.

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http://dx.doi.org/10.1007/s00439-002-0721-7DOI Listing
May 2002