OpenURL Connection Search

Select item for more details and to access through your institution.

In Memoriam: Professor Marina Frontali, MD (1941–2021).
Published in:
2021
By:
- Giunti, Paola;
- Mantuano, Elide;
- Valente, Enza Maria;
- Veneziano, Liana
Publication type:
Obituary
Leukocyte Telomere Length as Potential Biomarker of HD Progression: A Follow-Up Study.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13449, doi. 10.3390/ijms232113449
By:
- Scarabino, Daniela;
- Veneziano, Liana;
- Mantuano, Elide;
- Arisi, Ivan;
- Fiore, Alessia;
- Frontali, Marina;
- Corbo, Rosa Maria
Publication type:
Article
Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington's Disease: A Pilot Study.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 20, p. 12440, doi. 10.3390/ijms232012440
By:
- Romano, Silvia;
- Romano, Carmela;
- Peconi, Martina;
- Fiore, Alessia;
- Bellucci, Gianmarco;
- Morena, Emanuele;
- Troili, Fernanda;
- Cipollini, Virginia;
- Annibali, Viviana;
- Giglio, Simona;
- Mechelli, Rosella;
- Ferraldeschi, Michela;
- Veneziano, Liana;
- Mantuano, Elide;
- Sani, Gabriele;
- Vecchione, Andrea;
- Umeton, Renato;
- Giubilei, Franco;
- Salvetti, Marco;
- Corbo, Rosa Maria
Publication type:
Article
A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature.
Published in:
Cerebellum, 2014, v. 13, n. 5, p. 588, doi. 10.1007/s12311-014-0570-7
By:
- Veneziano, Liana;
- Parkinson, Michael;
- Mantuano, Elide;
- Frontali, Marina;
- Bhatia, Kailash;
- Giunti, Paola
Publication type:
Article
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.
Published in:
Journal of Human Genetics, 2014, v. 59, n. 3, p. 153, doi. 10.1038/jhg.2013.137
By:
- Veneziano, Liana;
- Mantuano, Elide;
- Catalli, Claudio;
- Gellera, Cinzia;
- Durr, Alexandra;
- Romano, Silvia;
- Spadaro, Maria;
- Frontali, Marina;
- Novelletto, Andrea
Publication type:
Article
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Published in:
Nature Genetics, 2010, v. 42, n. 4, p. 313, doi. 10.1038/ng.544
By:
- Di Bella, Daniela;
- Lazzaro, Federico;
- Brusco, Alfredo;
- Plumari, Massimo;
- Battaglia, Giorgio;
- Pastore, Annalisa;
- Finardi, Adele;
- Cagnoli, Claudia;
- Tempia, Filippo;
- Frontali, Marina;
- Veneziano, Liana;
- Sacco, Tiziana;
- Boda, Enrica;
- Brussino, Alessandro;
- Bonn, Florian;
- Castellotti, Barbara;
- Baratta, Silvia;
- Mariotti, Caterina;
- Gellera, Cinzia;
- Fracasso, Valentina
Publication type:
Article
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12671-y
By:
- Corbett, Mark A.;
- Kroes, Thessa;
- Veneziano, Liana;
- Bennett, Mark F.;
- Florian, Rahel;
- Schneider, Amy L.;
- Coppola, Antonietta;
- Licchetta, Laura;
- Franceschetti, Silvana;
- Suppa, Antonio;
- Wenger, Aaron;
- Mei, Davide;
- Pendziwiat, Manuela;
- Kaya, Sabine;
- Delledonne, Massimo;
- Straussberg, Rachel;
- Xumerle, Luciano;
- Regan, Brigid;
- Crompton, Douglas;
- van Rootselaar, Anne-Fleur
Publication type:
Article
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
Published in:
Frontiers in Cellular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fncel.2018.00429
By:
- Nethisinghe, Suran;
- Lim, Wei N.;
- Ging, Heather;
- Zeitlberger, Anna;
- Abeti, Rosella;
- Pemble, Sally;
- Sweeney, Mary G.;
- Labrum, Robyn;
- Cervera, Charisse;
- Houlden, Henry;
- Rosser, Elisabeth;
- Limousin, Patricia;
- Kennedy, Angus;
- Lunn, Michael P.;
- Bhatia, Kailash P.;
- Wood, Nicholas W.;
- Hardy, John;
- Polke, James M.;
- Veneziano, Liana;
- Brusco, Alfredo
Publication type:
Article
Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.
Published in:
Frontiers in Cellular Neuroscience, 2015, v. 8/9, p. 1, doi. 10.3389/fncel.2015.00036
By:
- Giunti, Paola;
- Mantuano, Elide;
- Frontali, Marina;
- Veneziano, Liana
Publication type:
Article
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.
Published in:
Epilepsia (Series 4), 2023, v. 64, p. S14, doi. 10.1111/epi.17610
By:
- Corbett, Mark A.;
- Depienne, Christel;
- Veneziano, Liana;
- Klein, Karl Martin;
- Brancati, Francesco;
- Guerrini, Renzo;
- Zara, Federico;
- Tsuji, Shoji;
- Gecz, Jozef
Publication type:
Article
Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases.
Published in:
Antioxidants, 2022, v. 11, n. 8, p. 1, doi. 10.3390/antiox11081436
By:
- Scarabino, Daniela;
- Veneziano, Liana;
- Fiore, Alessia;
- Nethisinghe, Suran;
- Mantuano, Elide;
- Garcia-Moreno, Hector;
- Bellucci, Gianmarco;
- Solanky, Nita;
- Morello, Maria;
- Zanni, Ginevra;
- Corbo, Rosa Maria;
- Giunti, Paola
Publication type:
Article
Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow‐up study.
Published in:
Headache: The Journal of Head & Face Pain, 2023, v. 63, n. 7, p. 889, doi. 10.1111/head.14582
By:
- Mangano, Giuseppe Donato;
- Capizzi, Maria Rita;
- Mantuano, Elide;
- Veneziano, Liana;
- Santangelo, Giuseppe;
- Quatrosi, Giuseppe;
- Nardello, Rosaria;
- Raieli, Vincenzo
Publication type:
Article
Characterization of human frataxin missense variants in cancer tissues.
Published in:
Human Mutation, 2019, v. 40, n. 9, p. 1400, doi. 10.1002/humu.23789
By:
- Petrosino, Maria;
- Pasquo, Alessandra;
- Novak, Leonore;
- Toto, Angelo;
- Gianni, Stefano;
- Mantuano, Elide;
- Veneziano, Liana;
- Minicozzi, Velia;
- Pastore, Annalisa;
- Puglisi, Rita;
- Capriotti, Emidio;
- Chiaraluce, Roberta;
- Consalvi, Valerio
Publication type:
Article
Analyzing the Effects of a G137V Mutation in the FXN Gene.
Published in:
Frontiers in Molecular Neuroscience, 2015, v. 8, p. 1, doi. 10.3389/fnmol.2015.00066
By:
- Faggianelli, Nathalie;
- Puglisi, Rita;
- Veneziano, Liana;
- Romano, Silvia;
- Frontali, Marina;
- Vannocci, Tommaso;
- Fortuni, Silvia;
- Testi, Roberto;
- Pastore, 4 Annalisa;
- Koch, Philipp;
- Atanasov, Atanas G.
Publication type:
Article
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.
Published in:
Neurogenetics, 2022, v. 23, n. 2, p. 91, doi. 10.1007/s10048-021-00680-3
By:
- Thust, Steffi;
- Veneziano, Liana;
- Parkinson, Michael H.;
- Bhatia, Kailash P.;
- Mantuano, Elide;
- Gonzalez-Robles, Cristina;
- Davagnanam, Indran;
- Giunti, Paola
Publication type:
Article
A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.
Published in:
2005
By:
- Spadaro, Maria;
- Ursu, Simona;
- Lehmann-Horn, Frank;
- Veneziano, Liana;
- Antonini, Giovanni;
- Giunti, Paola;
- Frontali, Marina;
- Jurkat-Rott, Karin
Publication type:
Correction Notice
A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.
Published in:
Neurogenetics, 2004, v. 5, n. 3, p. 177, doi. 10.1007/s10048-004-0183-2
By:
- Spadaro, Maria;
- Ursu, Simona;
- Lehmann-Horn, Frank;
- Liana, Veneziano;
- Giovanni, Antonini;
- Paola, Giunti;
- Frontali, Marina;
- Jurkat-Rott, Karin
Publication type:
Article
Forensic DNA Challenges: Replacing Numbers with Names of Fosse Ardeatine’s Victims.
Published in:
Journal of Forensic Sciences, 2009, v. 54, n. 4, p. 905, doi. 10.1111/j.1556-4029.2009.01052.x
By:
- Pietrangeli, Ilenia;
- Caruso, Vincenzo;
- Veneziano, Liana;
- Spinella, Aldo;
- Arcudi, Giovanni;
- Giardina, Emiliano;
- Novelli, Giuseppe
Publication type:
Article
Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 11, p. 1973, doi. 10.1093/hmg/6.11.1973
By:
- Jodice, Carla;
- Mantuano, Elide;
- Veneziano, Liana;
- Trettel, Flavia;
- Sabbadini, Guglielmo;
- Calandriello, Luigi;
- Francia, Ada;
- Spadaro, Maria;
- Pierelli, Francesco;
- Salvi, Fabrizio;
- Ophoff, Roel A.;
- Frants, Rune R.;
- Frontali, Marina
Publication type:
Article

Found: 19

In Memoriam: Professor Marina Frontali, MD (1941–2021).

Leukocyte Telomere Length as Potential Biomarker of HD Progression: A Follow-Up Study.

Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington's Disease: A Pilot Study.

A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature.

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.

Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases.

Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow‐up study.

Characterization of human frataxin missense variants in cancer tissues.

Analyzing the Effects of a G137V Mutation in the FXN Gene.

Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.

A G301R Na<sup>+</sup>/K<sup>+</sup>-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.

A G301R Na<sup>+</sup>/K<sup>+</sup>-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.

Forensic DNA Challenges: Replacing Numbers with Names of Fosse Ardeatine’s Victims.

Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p.