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The development of lysosomal apparatus I. Lysosomal enzyme activities in the liver of mice at perinatal stages and those of their mothers.
Published in:
Journal of Cellular Physiology, 1978, v. 95, n. 3, p. 269, doi. 10.1002/jcp.1040950304
By:
- Mazzei, Héctor R.;
- Bertini, Francisco
Publication type:
Article
An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene.
Published in:
Neurological Sciences, 2004, v. 24, n. 6, p. 401, doi. 10.1007/s10072-003-0196-x
By:
- Guicletti, D.;
- Casati, B.;
- L. Mazzei, R.;
- Cenacchi, G.;
- De Berti, G.;
- Zuccoti, G.;
- Nicoli, D.;
- Conforti, F. L.;
- Sprovieri, T.;
- Pasquinetti, G.;
- Brini, M.
Publication type:
Article
Poly[3-ethyl-1-vinyl-imidazolium] diethyl phosphate/Pebax® 1657 Composite Membranes and Their Gas Separation Performance.
Published in:
Membranes, 2020, v. 10, n. 9, p. 224, doi. 10.3390/membranes10090224
By:
- Mazzei, Irene R.;
- Nikolaeva, Daria;
- Fuoco, Alessio;
- Loïs, Sandrine;
- Fantini, Sébastien;
- Monteleone, Marcello;
- Esposito, Elisa;
- Ashtiani, Saeed Jamali;
- Lanč, Marek;
- Vopička, Ondřej;
- Friess, Karel;
- Vankelecom, Ivo F. J.;
- Jansen, Johannes Carolus
Publication type:
Article
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.
Published in:
Clinical Genetics, 2008, v. 73, n. 5, p. 486, doi. 10.1111/j.1399-0004.2008.00969.x
By:
- Muglia, M.;
- Magariello, A.;
- Citrigno, L.;
- Passamonti, L.;
- Sprovieri, T.;
- Conforti, F. L.;
- Mazzei, R.;
- Patitucci, A.;
- Gabriele, A. L.;
- Ungaro, C.;
- Bellesi, M.;
- Quattrone, A.
Publication type:
Article
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.
Published in:
European Journal of Neurology, 2014, v. 21, n. 3, p. e25, doi. 10.1111/ene.12305
By:
- Magariello, A.;
- Citrigno, L.;
- Zuchner, S.;
- Gonzalez, M.;
- Patitucci, A.;
- Sofia, V.;
- Conforti, F. L.;
- Pappalardo, I.;
- Mazzei, R.;
- Ungaro, C.;
- Zappia, M.;
- Muglia, M.
Publication type:
Article
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.
Published in:
European Journal of Neurology, 2013, v. 20, n. 1, p. e22, doi. 10.1111/ene.12000
By:
- Magariello, A.;
- Tortorella, C.;
- Patitucci, A.;
- Tortelli, R.;
- Liguori, M.;
- Mazzei, R.;
- Conforti, F. L.;
- Citrigno, L.;
- Ungaro, C.;
- Simone, I. L.;
- Muglia, M.
Publication type:
Article
Silent Celiac Disease in Patients with Childhood Localization-Related Epilepsies.
Published in:
Epilepsia (Series 4), 2001, v. 42, n. 9, p. 1153, doi. 10.1046/j.1528-1157.2001.45700.x
By:
- Labate, A.;
- Gambardella, A.;
- Messina, D.;
- Tammaro, S.;
- Le Piane, E.;
- Pirritano, D.;
- Cosco, C.;
- Doldo, P.;
- Mazzei, R.;
- Oliveri, R. L.;
- Bosco, D.;
- Zappia, M.;
- Valentino, P.;
- Aguglia, U.;
- Quattrone, A.
Publication type:
Article
Hyperekplexia in a patient with a brainstem vascular anomaly.
Published in:
Acta Neurologica Scandinavica, 1999, v. 99, n. 4, p. 255, doi. 10.1111/j.1600-0404.1999.tb07358.x
By:
- Gambardella, A.;
- Valentino, P.;
- Annesi, G.;
- Oliveri, R. L.;
- Bono, F.;
- Mazzei, R. L.;
- Conforti, F. L.;
- Aguglia, U.;
- Zappia, M.;
- Pardatscher, K.;
- Quattrone, A.
Publication type:
Article
Systematic review of economic evaluations investigating education, exercise, and dietary weight management to manage hip and knee osteoarthritis: protocol.
Published in:
Systematic Reviews, 2020, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13643-020-01492-6
By:
- Mazzei, Darren R.;
- Ademola, Ayoola;
- Abbott, J. Haxby;
- Sajobi, Tolulpe;
- Hildebrand, Kevin;
- Marshall, Deborah A.
Publication type:
Article
Lifestyle and late effects after poliomyelitis. A risk factor study of two populations.
Published in:
Acta Neurologica Scandinavica, 2004, v. 109, n. 2, p. 120, doi. 10.1034/j.1600-0404.2003.00186.x
By:
- Mazzei, R.;
- Conforti, F. L.;
- Patitucci, A.;
- Sprovieri, T.;
- Valentino, P.;
- Bonavita, S.;
- Muglia, M.;
- Gambardella, A.;
- Magariello, A.;
- Gabriele, A. L.;
- Labate, A.;
- Bono, F.;
- Zappia, M.;
- Quattrone, A.
Publication type:
Article
Case report Gene conversion events in adult-onset spinal muscular atrophy.
Published in:
2004
By:
- Mazzei, R.;
- Conforti, F. L.;
- Patitucci, A.;
- Sprovieri, T.;
- Valentino, P.;
- Bonavita, S.;
- Muglia, M.;
- Gambardella, A.;
- Magariello, A.;
- Gabrielle, A. L.;
- Labate, A.;
- Bono, F.;
- Zappia, M.;
- Quattrone, A.
Publication type:
Book Review
Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene.
Published in:
Annals of Neurology, 1998, v. 44, n. 5, p. 836, doi. 10.1002/ana.410440522
By:
- Gambardella, A.;
- Mazzei, R.;
- Toscano, A.;
- Annesi, G.;
- Pasqua, A.;
- Annesi, F.;
- Quattrone, F.;
- Oliveri, R. I.;
- Valentino, P.;
- Bono, F.;
- Aguglia, U.;
- Zappia, M.;
- Vita, G.;
- Quattrone, A.
Publication type:
Article
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
Published in:
Neurogenetics, 2004, v. 5, n. 1, p. 49, doi. 10.1007/s10048-003-0167-7
By:
- Muglia, M.;
- Criscuolo, C.;
- Magariello, A.;
- de Michele, G.;
- Scarano, V.;
- D'Adamo, P.;
- Ambrosio, G.;
- Gabriele, A. L.;
- Patitucci, A.;
- Mazzei, R.;
- Conforti, F. L.;
- Sprovieri, T.;
- Morgante, L.;
- Epifanio, A.;
- La Spina, P.;
- Valentino, P.;
- Gasparini, P.;
- Filla, A.;
- Quattrone, A.
Publication type:
Article
Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene.
Published in:
Human Mutation, 2000, v. 15, n. 3, p. 299, doi. 10.1002/(SICI)1098-1004(200003)15:3<299::AID-HUMU24>3.0.CO;2-Z
By:
- Muglia, M.;
- Toscano, A.;
- Gabriele, A.L.;
- Magariello, A.;
- Patitucci, A.;
- Conforti, F.L.;
- Mazzei, R.;
- Rodolico, C.;
- Gambardella, A.;
- Quattrone, A.
Publication type:
Article
A splice-junction mutation in SBF2 gene causes autosomal recessive charcot-marie-tooth disease (CMT4B2) in a family from southern italy.
Published in:
2004
By:
- Conforti, F. L.;
- Muglia, M;
- Mazzei, R;
- Valentino, P;
- Patitucci, A;
- Bono, F;
- Magariello, A;
- Sprovieri, T;
- Senderek, J;
- Bergmann, C;
- Nistic, R;
- Gabriele, AL;
- Peluso, G;
- Quattrone, A
Publication type:
Abstract
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
Published in:
2004
By:
- Muglia, M.;
- Criscuolo, C;
- Magariello, A;
- De Michele, G;
- Scarano, V;
- D’Adamo, P;
- Ambrosio, G;
- Gabriele, AL;
- Patitucci, A;
- Mazzei, R;
- Conforti, FL;
- Sprovieri, T;
- Morgante, L;
- Epifanio, A;
- La Spina, P;
- Valentino, P;
- Gasparini, P;
- Filla, A;
- Quattrone, A
Publication type:
Abstract
Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy.
Published in:
2004
By:
- Magariello, A.;
- Muglia, M;
- Passamonti, L;
- Bellesi, M;
- Conforti, FL;
- Mazzei, R;
- Patitucci, A;
- Gabriele, AL;
- Sprovieri, T;
- Peluso, G;
- Caracciolo, M;
- Medici, E;
- Logullo, F;
- Provinciali, L;
- Quattrone, A
Publication type:
Abstract

Found: 17