Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Rivista Scientifica Neuron - 22/03/2018

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

Isabella Fogh1,2,3,*, Antonia Ratti2,3, Cinzia Gellera4, Kuang Lin1,§, Cinzia Tiloca2,5,§, Valentina Moskvina6,§, Lucia Corrado7, Gianni Sorarù8, Cristina Cereda9, Stefania Corti3,10, Davide Gentilini11, Daniela Calini2, Barbara Castellotti4, Letizia Mazzini7,12, Giorgia Querin8, Stella Gagliardi9, Roberto Del Bo3,10, Francesca L. Conforti13, Gabriele Siciliano14, Maurizio Inghilleri15, Francesco Saccà16, Paolo Bongioanni17, Silvana Penco18, Massimo Corbo19, Sandro Sorbi20, Massimiliano Filosto21, Alessandra Ferlini22, Anna M. Di Blasio11, Stefano Signorini23, Aleksey Shatunov24, Ashley Jones24, Pamela J. Shaw25, Karen E. Morrison26, Anne E. Farmer27, Philip Van Damme28, Wim Robberecht28, Adriano Chiò29, Bryan J. Traynor30, Michael Sendtner31, Judith Melki32, Vincent Meininger33, Orla Hardiman34, Peter M. Andersen35, Nigel P. Leigh36, Jonathan D. Glass37, Daniel Overste38, Frank P. Diekstra38, Jan H. Veldink38, Michael A. van Es38, Christopher E. Shaw24, Michael E. Weale27,39, Cathryn M. Lewis27,39, Julie Williams6, Robert H. Brown40, John E. Landers40, Nicola Ticozzi2,3, Mauro Ceroni41, Elena Pegoraro8, Giacomo P. Comi3,10, Sandra D'Alfonso7, Leonard H. van den Berg38, Franco Taroni4, Ammar Al-Chalabi24, John Powell1,†, Vincenzo Silani2,3,†, the SLAGEN Consortium Collaborators

Human Molecular Genetics - 20/11/2013

Neurorescue effects and stem properties of chorinic villi and amniotic progenitors cells.

Neuroscience 2013 - 14/10/2013

Non-invasive near-infrared live imaging of human adult mesenchymal stem cells transplanted ina rodent model of Parkinson’s disease.

Bossolasco P., Cova L., Levandis G., Diana V., Cerri S., Lambertenghi Deliliers G., Polli E., Silani V., Blandini F., Armentero M.T.

Int J Nanomed 2012 - 14/10/2013

Molecular signatures of ALS disease progression in hind and forelimb muscles of a SOD1G93A mouse model.

Capitanio D., Vasso M., Ratti A., Grignaschi G., Volta M., Moriggi M., Daleno C., Bendotti C., Silani V., Gelfi C.

Antioxid Redox Signal 2012 - 14/10/2013

Longitudinal tracking of human fetal cells labeled with super paramagnetic iron oxide nanoparticles in the brain of mice motor neuron disease.

Bigini P., Diana V., Barbera S., Fumagalli E., Micotti E., Sitia L., Paladini A., De Grada L., Coloca L., Colombo L., Manca P., Bossolasco P., Fiordaliso F., Bisighini C., Malvestiti F., Salmona M., Giardino D. Mennini T., Moscatelli D., Silani V. Cova L.

PLoS One. 2012 - 14/10/2013

Neuroprotective effects of human mesenchymal stem cells on neuronal cultures exposed to 6-hydroxydopamine. Implications for separative therapy in Parkinson’s disease.

Cova L., Armentero M.T., Bossolasco P., Diana V., Zennaro E., Mellone M., Calzarosa C., Cerri S., Lambertenghi Deliliers G., Polli E., Blandini F., Silani V.

Apoptosis 2012 - 14/10/2013

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.

Tiloca C., Ratti A., Pensato V., Castucci A., Sorarù G., Del Bo R., Corrado L., Cereda C., D’Ascenzo C., Comi G.P., Mazzini L., Castellotti B., Ticozzi N., Gellera C., Silani V., and The SLAGEN Consortium.

2012 - 14/10/2013

TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells

Colombrita C., Onesto E., Megiorni F., Pizzuti A., Baralle F., Buratti E., Silani V., Ratti A.

J Biol Chem 2012 - 14/10/2013

Screening of the PFN1 gene in sporadic ALS and FTD.

Tiloca C., Ticozzi N., Pensato V., Corrado L., Del Bo R., Bertolin C., Fenoglio C., Gagliardi S., Calini D., Lautia G., Castellotti B., Bagarotti A., Corti A., Galimberti D., Cagnin A., Gabelli C., Ranieri M., Ceroni M., Siciilano G., Mazzini L., Cereda C., Scarpini E., Sorarù G., D’ Alfonso S., Gellera C., Ratti A. Landers J.E., Silani V. and the SLAGEN Consortium.

Neurobiol Aging. 2012 - 14/10/2013

C9ORF72 hexanucleotide repeat expansion in a large Italian cohort with amyotrophic lateral sclerosis and the evidence of a founder effect.

Ratti A., Corrado L., Castellotti B., Del Bo R., Fogh I., Cereda C., Tiloca C., D’Ascenzo C., Bagarotti A., Pensato V.4, Ranieri M., Gagliardi S., Calini D.1, Mazzini L.9, Taroni F.4, Corti S..,Ceroni M., Oggioni G. D., Lim K., Powell J.F., Sorarù G., Ticozzi N., Comi G.P., D’Alfonso S., Gellea C., Silani V. and the SLAGEN Consortium.

2012 - 14/10/2013

Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis.

Wu C.-H., Fallini C., Ticozzi N., Keagle P., Sapp P.C., Piotrowska K., Lowe P., Koppers M., McKenna-Yasek D., Baron D. M., Kost J. E., Gonzalez-Perez P., Fox A. D., Adams J., Taroni F., Tiloca C., Leclerc A.L., Chafe S.C., Mangroo D., Moore M.J., Zitzewitz J.A., Xu Z-S., van den Berg L.H., Glass J.D., Sicilino G., Cirulli E.T., Goldstein D.B., Salachas F., Meininger V., Rossoll W., Ratti A., Gellera C., Bosco D.A., Bassell G.J., Silani V., Drory V.E., Brown R.H., Jr., Landers J.E.

Nature 2012 - 14/10/2013

Wake-up stroke and TIA due to paradoxical embolism during long obstructive sleep apnea: a cross-sectional study.

Ciccone A, Proserpio P, Roccatagliata DV, Nichelatti M, Gigli GL, Parati G, Lombardi C, Pizza F, Cirignotta F, Santilli IM, Silani V, Sterzi R, Nobili L. the D.A.RI.A (Detection of Sleep Apnea as Risk Factor in Acute Stroke) Investigators.

Thorax 2013 - 14/10/2013

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.

Gellera C.,Tiloca C.,Del Bo R.,Corrado L.,Pensato V.,Agostini J.,Cereda C.,Ratti A., Castellotti B., Corti S., Bagarotti A., Cagnin A., Milani P., Gabelli C., Riboldi G., Mazzini L., Sorarù G., D’Alfonso S., Taroni F.,Comi G.P.,Ticozzi N., Silani V. and The SLAGEN Consortium.

J Neurol Neurosur Psychiat 2013 - 14/10/2013

Charles Bonnet syndrome: two case reports and review of the literature.

Lerario A., Ciammola A., Poletti B., Girotti F., Silani V.

J Neurol 2013 - 14/10/2013

Intra- and interhemispheric structural network abnormalities in PLS and ALS.

Agosta F., Galantucci S., Riva N., Chiò A., Messina S., Iannaccone S., Calvo A., Silani V., Copetti M., Falini A., Comi G., Filippi M.

2013 - 14/10/2013

ELAV proteins and their multi-faceted RNA-binding activities in neurons.

Colombrita C., Silani V., Ratti A.

Mol Cell Neurosci 2013 - 14/10/2013

Vascular and parenchymal lesions along with enhanced neurogenesis characterize the brain of asymptomatic stroke-prone spontaneous hypertensive rats

Cova L., Gelosa P., Mura E., Mauro A., Stramba-Badiale M., Michailidis G., Colonna A., El Assawy N., Pignieri A., Busca G., Tremoli E.,Silani V., Sironi L., Zanchetti A.

2013 - 14/10/2013

Biocompatible Fluorescent Nanoparticles for in vivo Stem Cell Tracking

Cova L., Bigini P., Diana V., Sitia L., Ferrari R., Pesce R.M., Khala f R., Bossolasco P., Ubezio P., Lupi M., Tortarolo M., Colombo L., Giardino D., Silani V., Morbidelli M., Salmona M., Moscatelli D.

Nanotechnology 2013 - 14/10/2013

Defining the Role of the Bcl-2 Family Proteins in Huntington’s Disease. Running title: Bcl-2 Family Proteins in Huntington’s Disease

Sassone J., Maraschi A.M., Sassone F., Silani V., Ciammola A.

Cell Death & Disease 2013 - 14/10/2013

Different mutations at V363MAPT codon are associated wtiyh atipica clinical phenotypes and sow unusual structural and functional features.

Rossi G., Bastone A., Piccolil E., Morbin M., Mazzoleni G., Fugnanesi V., Beeq M., Del favero E., Cantù L., Motta S., Salsano E., Pareyson D., Erbetta A., Elia A., Silani V., Morelli C., Salmona M, Tagliavini F.

Neurobiol Aging. 2013 - 14/10/2013

CSF Oligoclonal bands in ALS patients with disease associated mutations.

Ticozzi N., Tiloca C., Mencacci N.E., Morelli C., Doretti A., Rusconi D., Colombrita C.,Sangalli D., Verde F., Finelli P., Messina M., Ratti A., Silani V.

J Neurol 2013 - 14/10/2013