High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites

Autor: Manno, N., Sherratt, S., Boaretto, F., Coico, F. Mejìa, Camus, C. Espinoza, Campos, C. Jara, Musumeci, S., Battisti, A., Quinnell, R.J., León, J. Mostacero, Vazza, G., Mostacciuolo, M.L., Paoletti, M.G., Falcone, F.H.

Publikováno v: In Carbohydrate Polymers 26 November 2014 113:607-614

Familial mesial temporal lobe epilepsy (FMTLE)

Autor: Striano P, Gambardella A, Coppola A, Di Bonaventura C, Bovo G, Diani E, Boaretto F, Egeo G, Ciampa C, Labate A, Testoni S, Passarelli D, Manna I, Sferro C, Aguglia U, Giallonardo AT, Nobile C, Michelucci R., COPPOLA, ANTONIETTA, CARANCI, FERDINANDO, STRIANO, SALVATORE

Publikováno v: Journal of Neurology. 255:16-23

INTRODUCTION: Familial mesial temporal lobe epilepsy (FMTLE) is characterized by prominent psychic and autonomic seizures, often without hippocampal sclerosis (HS) or a previous history of febrile seizures (FS), and good prognosis. The genetics of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ba90b5663c632ffd3455fa26558ad7
https://doi.org/10.1007/s00415-007-0653-1

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Allelism of medullary cystic disease, familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease caused by delayed uromodulin trafficking to plasma membrane and endoplasmic reticulum retention

Autor: Rampoldi L, Lamorte G, Bernascone I, Caridi G, Santon D, Boaretto F, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, MAZZA, DAVIDE, CASARI , GIORGIO NEVIO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10495::017a0d76d3041d1133a7aa0c76cf7be8

Familial mesial temporal lobe epilepsy (FMTLE): a clinical and genetic study of 15 Italian families

Autor: Striano P, Gambardella A, Coppola A, Bonaventura C. Di, Bovo G, Diani E, Boaretto F, Egeo G, Labate A, Testoni S, Passarelli D, Manna I, Sferro C, Aguglia U, Giallonardo T, Striano S, Nobile C, Michelucci R.

Publikováno v: Journal of neurology
255-1 (2008): 16–23.
info:cnr-pdr/source/autori:Striano P, Gambardella A, Coppola A, Bonaventura C. Di, Bovo G, Diani E, Boaretto F, Egeo G, Labate A, Testoni S, Passarelli D, Manna I, Sferro C, Aguglia U, Giallonardo T, Striano S, Nobile C, Michelucci R./titolo:Familial mesial temporal lobe epilepsy (FMTLE): a clinical and genetic study of 15 Italian families./doi:/rivista:Journal of neurology (Print)/anno:2008/pagina_da:16/pagina_a:23/intervallo_pagine:16–23/volume:255-1

Introduction Familial mesial temporal lobe epilepsy (FMTLE) is characterized by prominent psychic and autonomic seizures, often without hippocampal sclerosis (HS) or a previous history of febrile seizures (FS), and good prognosis. The genetics of thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::da1120f2f8928d28767fee1375cffe23
https://publications.cnr.it/doc/169149