Serena Lattante

Serena Lattante

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Serena Lattante

Publications by authors named "Serena Lattante"

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Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.

Mol Genet Genomic Med 2019 Aug 9;7(8):e845. Epub 2019 Jul 9.

Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari "Aldo Moro", Bari, Italy.

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http://dx.doi.org/10.1002/mgg3.845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687641PMC
August 2019

Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS.

Neurobiol Aging 2019 Mar 27. Epub 2019 Mar 27.

Centro Clinico NEMO, Roma, Italy; Dipartimento Scienze dell'invecchiamento, Neurologiche, Ortopediche e della testa-collo, Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, Roma, Italy; Università Cattolica del Sacro Cuore, Istituto di Neurologia, Roma, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.03.010DOI Listing
March 2019

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.

Neurobiol Aging 2019 02 19;74:234.e1-234.e8. Epub 2018 Sep 19.

Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière ICM, Hôpital Pitié-Salpêtrière, Paris, France; National Reference Center for Rare or Early Dementias, Institute of Memory and Alzheimer's Disease IM2A, Department of Neurology, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183033
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.09.010DOI Listing
February 2019

Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation.

Stem Cell Res 2018 12 6;33:146-150. Epub 2018 Oct 6.

Centre for Integrative Biology, CIBIO, University of Trento, Via Sommarive 9, 38122 Trento, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.10.011DOI Listing
December 2018

ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis.

Neurobiol Aging 2018 04 28;64:157.e1-157.e5. Epub 2017 Nov 28.

Department of Geriatrics, Neurosciences and Orthopedics, Clinic Center NEMO-Roma, Institute of Neurology, Catholic University School of Medicine, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.11.011DOI Listing
April 2018

Matrin 3 variants are frequent in Italian ALS patients.

Neurobiol Aging 2017 01 6;49:218.e1-218.e7. Epub 2016 Oct 6.

Department of Geriatrics, Neurosciences and Orthopedics, Clinic Center NEMO-Roma, Institute of Neurology, Catholic University School of Medicine, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.09.023DOI Listing
January 2017

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.

Neurol Genet 2016 Jun 26;2(3):e80. Epub 2016 May 26.

Sorbonne Universités (P. Caroppo, A.C., L.G.-N., M.T., S.L., S.M., B.D., A.B., I.L.B.), UPMC Univ Paris 06, UMR S 1127, France; Inserm (P. Caroppo, A.C., L.G.-N., M.T., S.L., S.M., B.D., A.B., I.L.B.), U 1127, Paris, France; CNRS (P. Caroppo, A.C., L.G.-N., S.L., S.M., B.D., A.B., I.L.B.), UMR 7225, Paris, France; ICM (P. Caroppo, A.C., L.G.-N., M.T., S.L., S.M., B.D., A.B., I.L.B.), Paris, France; IRCCS Foundation "Carlo Besta" Neurological Institute, (P. Caroppo), Milan, Italy; Plein Ciel (C.T.-A.), Lyon; EA3082 Labo EMC (C.T.-A.), Université Lyon 2; Service de Neurologie (P. Couratier), Centre Hospitalo-Universitaire Dupuytren, Limoges, France; Department of Neurology (T.H.W., J.C.v.S.), Erasmus Medical Center, Rotterdam, the Netherlands; Centre de Référence des Démences Rares (M.T., F.C., B.D., I.L.B.), AP-HP Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Service de Neurologie (V.G.), Centre Hospitalier de Saint-Brieuc, Saint-Brieuc, France; CMRR (V.G., S.B.), Centre Hospitalo-Universitaire, Rennes, France; Service de Neurologie (S.A.), Centre Hospitalo-Universitaire Pellegrin, Bordeaux, France; Inserm-EPHE-Université de Caen/Basse-Normandie (S.B.), Unité U1077, GIP Cyceron, Caen, France; Neurology/Neuropsychology CMRR Unit (B.L.), CHU Nord, France; Institute of Medical Genetics (S.L.), Catholic University, University Hospital A. Gemelli, Roma, Italy; Unité Fonctionnelle de Neurogénétique Moléculaire et Cellulaire (F.C.), Unité Fonctionnelle de Génétique Clinique (A.B.), Département de Génétique et Cytogénétique, and Département de Neurologie (B.D., A.B., I.L.B.), AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4882769PMC
June 2016

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.

Brain Pathol 2016 Mar;26(2):266-75

Institute of Medical Genetics, Catholic University School of Medicine, Rome, Italy.

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http://dx.doi.org/10.1111/bpa.12354DOI Listing
March 2016

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).

Trends Genet 2015 May 10;31(5):263-73. Epub 2015 Apr 10.

Sorbonne Université, Université Pierre et Marie Curie (UPMC), Université de Paris 06, Unité Mixte 75, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 1127, Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche 7225, Institut du Cerveau et de la Moelle Épinière (ICM), 75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.tig.2015.03.005DOI Listing
May 2015

Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD.

Hum Mol Genet 2015 Mar 19;24(6):1682-90. Epub 2014 Nov 19.

Sorbonne Université, UPMC Univ Paris 06, UM 75, ICM; Inserm, U 1127, ICM; Cnrs, UMR 7225, ICM; ICM, Paris, F-75013 Paris, France,

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddu580DOI Listing
March 2015

ATXN2 polyQ intermediate repeats are a modifier of ALS survival.

Neurology 2015 Jan 19;84(3):251-8. Epub 2014 Dec 19.

From the ALS Center (A. Chiò, A. Calvo, C.M., A. Canosa, M. Brunetti, M. Barberis), "Rita Levi Montalcini" Department of Neuroscience, University of Torino; the Laboratory of Molecular Genetics (M. Brunetti, M. Barberis, G.R.), Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino (A. Chiò, A. Calvo); the Neuroscience Institute of Torino (NIT) (A. Chiò, A. Calvo); the Departments of Neurosciences, Ophthalmology, Genetics, Rehabilitation, and Child Health (A. Canosa), University of Genoa; the Neurological Institute (A. Conte, G.B., M.S.) and the Institute of Medical Genetics (G. Marangi, A.M., S.L., M.Z.), Catholic University of the Sacred Heart, Rome; the Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) (M. Bagarotti, L.C., S.D.), and the Department of Neurology (E.B., L.M.), "Amedeo Avogadro" University of Eastern Piedmont, Novara; the Salvatore Maugeri Foundation (A.B.), IRCSS, Pavia; the Scientific Institute of Milan (G. Mora); and Azienda Ospedaliera Universitaria Maggiore della Carità (E.B., L.M.), Novara, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000001159DOI Listing
January 2015

Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.

Neurobiol Aging 2014 Nov 28;35(11):2658.e1-2658.e5. Epub 2014 Jun 28.

Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06 UM75, Inserm U1127, CNRS UMR 7225, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.06.023DOI Listing
November 2014

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

Neurobiol Aging 2014 Oct 18;35(10):2419.e23-2419.e25. Epub 2014 Apr 18.

Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S1127, Centre de Recherche de l'Institut du Cerveau et de la Moelle, Paris, France.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208293PMC
October 2014

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

Neurology 2014 Sep 6;83(11):990-5. Epub 2014 Aug 6.

From the Institut du Cerveau et de la Moelle épinière (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurogénétique, ICM (G.S.), HéSam Université, GHU Pitié-Salpêtrière, F-75013, Paris; Fédération des Maladies du Système Nerveux, Centre de référence maladies rares SLA (F.S., V.M.), Département de Neuropathologie (D.S.), Department of Neurology (A.-M.B.), Unité Fonctionnelle de neurogénétique moléculaire et cellulaire (E.L.), Département de Génétique et Cytogénétique (A.B.), and Centre de référence Démences Rares (I.L.), AP-HP, Hôpital Pitié-Salpêtrière, F-75013, Paris; Inserm U1079 (D.H.), Rouen; Centre mémoire (F.P.), Université Lille Nord de France, EA1046, CHU, Lille; Neuroépidémiologie Tropicale (P.C.), Université de Limoges INSERM UMR1094, Limoges; Service de Neurologie et Pathologie du Mouvement (V.D.-B.), Hôpital Roger Salengro, CHRU Lille; and Service de neurologie (C.T.), Hôpital de Hautepierre, CHU de Strasbourg, 1 Avenue Molière, Strasbourg, France.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000077
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http://dx.doi.org/10.1212/WNL.0000000000000778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162303PMC
September 2014

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

Neurobiol Aging 2014 Apr 9;35(4):934.e5-6. Epub 2013 Oct 9.

INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France; Département de Neurologie, Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.09.016DOI Listing
April 2014

TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia.

Neurobiol Aging 2013 Oct 4;34(10):2443.e1-2. Epub 2013 Jun 4.

Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie-Paris 6, Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.04.030DOI Listing
October 2013

A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Sep 3;14(5-6):470-2. Epub 2013 Jan 3.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://www.tandfonline.com/doi/full/10.3109/21678421.2012.75
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http://dx.doi.org/10.3109/21678421.2012.756036DOI Listing
September 2013

Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients.

Neurobiol Aging 2013 Aug 10;34(8):2078.e5-6. Epub 2013 Apr 10.

Inserm, UMR_S975, CRICM; UPMC Univ Paris 06, UMR_S975; CNRS UMR 7225, Paris, France.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.03.002DOI Listing
August 2013

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

Ann Neurol 2013 Aug;74(2):180-7

Research Center of the Institute for Brain and Spinal Cord CRICM, National Institute of Health and Medical Research - Inserm UMR_S975, National Center for Scientific Reseach CNRS UMR_7225, Pierre and Marie Curie University UPMC Paris 6, F-75013, Paris, France.

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http://dx.doi.org/10.1002/ana.23946DOI Listing
August 2013

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France.

Neurobiol Aging 2013 Jun 24;34(6):1709.e1-2. Epub 2012 Nov 24.

Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie-Paris 6, Hôpital Pitié-Salpêtrière, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S01974580120055
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http://dx.doi.org/10.1016/j.neurobiolaging.2012.10.026DOI Listing
June 2013

TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.

Hum Mutat 2013 Jun 29;34(6):812-26. Epub 2013 Apr 29.

Institut du Cerveau et de la Moelle Épinière, Centre de Recherche, CHU Pitié-Salpétrière, Inserm, UMR_S975, CRICM, F-75013, Paris, France.

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http://doi.wiley.com/10.1002/humu.22319
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http://dx.doi.org/10.1002/humu.22319DOI Listing
June 2013

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.

Eur J Hum Genet 2013 Feb 2;21(2):229-32. Epub 2012 May 2.

Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Largo Francesco Vito 1, Rome, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548258PMC
February 2013

Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Jan 18;14(1):66-9. Epub 2012 Jun 18.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.3109/17482968.2012.692383DOI Listing
January 2013

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Nat Genet 2012 Apr 29;44(6):636-8. Epub 2012 Apr 29.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.

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http://www.nature.com/articles/ng.2257
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http://dx.doi.org/10.1038/ng.2257DOI Listing
April 2012

P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.

Neuromuscul Disord 2012 Jan 9;22(1):73-5. Epub 2011 Sep 9.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, L.go A. Gemelli 8, 00168 Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966110133
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http://dx.doi.org/10.1016/j.nmd.2011.08.003DOI Listing
January 2012

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant.

Neurobiol Aging 2011 Oct 28;32(10):1924.e15-8. Epub 2011 May 28.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.04.004DOI Listing
October 2011

A novel L67P SOD1 mutation in an Italian ALS patient.

Amyotroph Lateral Scler 2011 Mar 19;12(2):150-2. Epub 2011 Jan 19.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.3109/17482968.2011.551939DOI Listing
March 2011