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Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.
Published in:
European Journal of Neurology, 2016, v. 23, n. 10, p. 1580, doi. 10.1111/ene.13085
By:
- Tessa, A.;
- Battini, R.;
- Rubegni, A.;
- Storti, E.;
- Marini, C.;
- Galatolo, D.;
- Pasquariello, R.;
- Santorelli, F. M.
Publication type:
Article
Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.
Published in:
European Journal of Neurology, 2011, v. 18, n. 1, p. 150, doi. 10.1111/j.1468-1331.2010.03102.x
By:
- Battini, R.;
- Fogli, A.;
- Borghetti, D.;
- Michelucci, A.;
- Perazza, S.;
- Baldinotti, F.;
- Conidi, M. E.;
- Ferreri, M. I.;
- Simi, P.;
- Cioni, G.
Publication type:
Article
Effect of combined treatment with gonadotropin releasing hormone analogue and growth hormone in patients with central precocious puberty who had subnormal growth velocity and impaired height prognosis.
Published in:
1995
By:
- Saggese, G;
- Pasquino, AM;
- Bertelloni, S;
- Baroncelli, GI;
- Battini, R;
- Pucarelli, I;
- Segni, M;
- Franchi, G;
- Pasquino, A M;
- Baroncelli, G I
Publication type:
journal article
Growth velocity and serum aminoterminal propeptide of type III procollagen in precocious puberty during gonadotropin-releasing hormone analogue treatment.
Published in:
1993
By:
- Saggese, G;
- Bertelloni, S;
- Baroncelli, GI;
- Nero, G Di;
- Battini, R;
- Baroncelli, G I;
- Di Nero, G
Publication type:
journal article
The Costs of Childhood Epilepsy in Italy: Comparative Findings from Three Health Care Settings.
Published in:
Epilepsia (Series 4), 2001, v. 42, n. 5, p. 641
By:
- Guerrini, R.;
- Battini, R.;
- Ferrari, A. R.;
- Veggiotti, P.;
- Besana, D.;
- Gobbi, G.;
- Pezzani, M.;
- Berta, E.;
- Tetto, A.;
- Beghi, E.;
- Monticelli, M. L.;
- Tediosi, F.;
- Garattini, L.;
- Russo, S.;
- Rasmini, P.;
- Amadi, A.;
- Quarti, P.;
- Fabrizzi, R.
Publication type:
Article
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.
Published in:
Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00600-0
By:
- Alesi, V.;
- Genovese, S.;
- Roberti, M. C.;
- Sallicandro, E.;
- Di Tommaso, S.;
- Loddo, S.;
- Orlando, V.;
- Pompili, D.;
- Calacci, C.;
- Mei, V.;
- Pisaneschi, E.;
- Faggiano, M. V.;
- Morgia, A.;
- Mammì, C.;
- Astrea, G.;
- Battini, R.;
- Priolo, M.;
- Dentici, M. L.;
- Milone, R.;
- Novelli, A.
Publication type:
Article
Brain morphometry of preschool age children affected by autism spectrum disorder: Correlation with clinical findings.
Published in:
Clinical Anatomy, 2019, v. 32, n. 1, p. 143, doi. 10.1002/ca.23252
By:
- Lucibello, S.;
- Verdolotti, T.;
- Giordano, F. M.;
- Lapenta, L.;
- Infante, A.;
- Piludu, F.;
- Tartaglione, T.;
- Chieffo, D.;
- Colosimo, C.;
- Mercuri, E.;
- Battini, R.
Publication type:
Article
Neuroimaging Features of Ectopic Cerebellar Tissue: A Case Series Study of a Rare Entity.
Published in:
American Journal of Neuroradiology, 2021, v. 42, n. 6, p. 1167, doi. 10.3174/ajnr.A7105
By:
- Orman, G.;
- Kralik, S. F.;
- Battini, R.;
- Buchignani, B.;
- Desai, N. K.;
- Goetti, R.;
- Meoded, A.;
- Mitter, C.;
- Wallacher-Scholz, B.;
- Boltshauser, E.;
- Huisman, T. A. G. M.
Publication type:
Article
45,X Maleness: Clinical and Cytogenetic Features in Two Patients.
Published in:
Sexual Development, 2012, v. 5, n. 6, p. 281, doi. 10.1159/000335463
By:
- Dati, E.;
- Valetto, A.;
- Bertini, V.;
- Chiocca, E.;
- Baroncelli, G.I.;
- Battini, R.;
- Bertelloni, S.
Publication type:
Article
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome.
Published in:
2009
By:
- Strigini F;
- Valleriani A;
- Cecchi M;
- Ghirri P;
- Aiello C;
- Bertini E;
- Cioni G;
- Battini R
Publication type:
Journal Article
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker—Warburg syndrome.
Published in:
2009
By:
- Strigini, F.;
- Valleriani, A.;
- Cecchit, M.;
- Ghirri, P.;
- AieIlo, C.;
- Bertini, E.;
- Cioni, G.;
- Battini, R.
Publication type:
Letter
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Published in:
2006
By:
- Valente EM;
- Brancati F;
- Silhavy JL;
- Castori M;
- Marsh SE;
- Barrano G;
- Bertini E;
- Boltshauser E;
- Zaki MS;
- Abdel-Aleem A;
- Abdel-Salam GM;
- Bellacchio E;
- Battini R;
- Cruse RP;
- Dobyns WB;
- Krishnamoorthy KS;
- Lagier-Tourenne C;
- Magee A;
- Pascual-Castroviejo I;
- Salpietro CD
Publication type:
Journal Article
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Published in:
Journal of Neurology, 2015, v. 262, n. 1, p. 154, doi. 10.1007/s00415-014-7549-7
By:
- Barone, Rita;
- Carrozzi, M.;
- Parini, R.;
- Battini, R.;
- Martinelli, D.;
- Elia, M.;
- Spada, M.;
- Lilliu, F.;
- Ciana, G.;
- Burlina, A.;
- Leuzzi, V.;
- Leoni, M.;
- Sturiale, L.;
- Matthijs, G.;
- Jaeken, J.;
- Rocco, M.;
- Garozzo, D.;
- Fiumara, A.
Publication type:
Article
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
Published in:
Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 399, doi. 10.1023/A:1020108002877
By:
- Kleijer, W.;
- Garritsen, V.;
- Linnebank, M.;
- Mooyer, P.;
- Huijmans, J.;
- Mustonen, A.;
- Simola, K.;
- Arslan-Kirchner, M.;
- Battini, R.;
- Briones, P.;
- Cardo, E.;
- Mandel, H.;
- Tschiedel, E.;
- Wanders, R.;
- Koch, H.
Publication type:
Article
In memoriam: Dr.ssa Anna Maria Valleriani.
Published in:
2014
By:
- Canapicchi, R.;
- Tosetti, M.;
- Pasquariello, R.;
- Fiori, S.;
- Battini, R.;
- Cioni, G.
Publication type:
Obituary
R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome.
Published in:
Neurogenetics, 2018, v. 19, n. 3, p. 179, doi. 10.1007/s10048-018-0552-x
By:
- Catania, A.;
- Battini, R.;
- Pippucci, T.;
- Pasquariello, R.;
- Chiapparini, M. L.;
- Seri, M.;
- Garavaglia, B.;
- Zorzi, G.;
- Nardocci, N.;
- Ghezzi, D.;
- Tiranti, V.
Publication type:
Article
Characterization of seven novel mutations in seven patients with GAMT deficiency.
Published in:
Human Mutation, 2004, v. 23, n. 5, p. 524, doi. 10.1002/humu.9238
By:
- Item, C.B.;
- Mercimek-Mahmutoglu, S.;
- Battini, R.;
- Edlinger-Horvat, C.;
- Stromberger, C.;
- Bodamer, O.;
- Mühl, A.;
- Vilaseca, M.A.;
- Korall, H.;
- Stöckler-Ipsiroglu, S.
Publication type:
Article
Design and characterization of a mutation outside the active site of human thymidylate synthase that affects ligand binding.
Published in:
PEDS: Protein Engineering, Design & Selection, 2010, v. 23, n. 2, p. 81, doi. 10.1093/protein/gzp075
By:
- Cardinale, D.;
- Salo-Ahen, O. M. H.;
- Guaitoli, G.;
- Ferrari, S.;
- Venturelli, A.;
- Franchini, S.;
- Battini, R.;
- Ponterini, G.;
- Wade, R. C.;
- Costi, M. P.
Publication type:
Article

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