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Pes cavus and hereditary neuropathies: when a relationship should be suspected.
Published in:
2010
By:
- Piazza S;
- Ricci G;
- Caldarazzo Ienco E;
- Carlesi C;
- Volpi L;
- Siciliano G;
- Mancuso M;
- Piazza, S;
- Ricci, G;
- Caldarazzo Ienco, E;
- Carlesi, C;
- Volpi, L;
- Siciliano, G;
- Mancuso, M
Publication type:
journal article
Multiple mtDNA deletions: Clinical and molecular correlations.
Published in:
Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 155, doi. 10.1023/A:1005617916260
By:
- Santorelli, F.;
- De Joanna, G.;
- Casali, C.;
- Tessa, A.;
- Siciliano, G.;
- Amabile, G.;
- Pierelli, F.;
- Vilarinho, L.;
- Santoro, L.
Publication type:
Article
1180 Integrated Backscatter Analysis detects early systolic functional and structural left ventricular alterations in patients with type-1 myotonic distrophy
Published in:
2006
By:
- Di Cori, A.;
- Di Bello, V.;
- Bongiorni, M.G.;
- Bartoli, C.;
- Talini, E.;
- Donne, M.G. Delle;
- Siciliano, G.;
- Barsotti, A.
Publication type:
Abstract
1163 Contribution of myocardial performance index to assessment of left ventricular function in patients with type-1 myotonic distrophy
Published in:
2006
By:
- Bartoli, C.;
- Bongiorni, M.G.;
- Di Cori, A.;
- Di Bello, V.;
- Donne, M.G. Delle;
- Soldati, E.;
- Siciliano, G.;
- Barsotti, A.
Publication type:
Abstract
Catatonia as prominent feature of stroke-like episode in MELAS.
Published in:
2021
By:
- Montano, V.;
- Simoncini, C.;
- LoGerfo, A.;
- Siciliano, G.;
- Mancuso, M.
Publication type:
Letter
Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.
Published in:
2009
By:
- Mancuso M;
- Siciliano G;
- Capellari S;
- Orsucci D;
- Moretti P;
- Fede GD;
- Suardi S;
- Strammiello R;
- Parchi P;
- Tagliavini F;
- Murri L;
- Mancuso, Michelangelo;
- Siciliano, Gabriele;
- Capellari, Sabina;
- Orsucci, Daniele;
- Moretti, Policarpo;
- Di Fede, Giuseppe;
- Suardi, Silvia;
- Strammiello, Rosaria;
- Parchi, Piero
Publication type:
journal article
Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany.
Published in:
2007
By:
- Mancuso, M.;
- Nardini, M.;
- Micheli, D.;
- Rocchi, A.;
- Nesti, C.;
- Giglioli, N. J.;
- Petrozzi, L.;
- Rossi, C.;
- Ceravolo, R.;
- Bacci, A.;
- Choub, A.;
- Ricci, G.;
- Tognoni, G.;
- Manca, M. L.;
- Siciliano, G.;
- Murri, L.
Publication type:
journal article
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
Published in:
Neurological Sciences, 2006, v. 27, n. 2, p. 134, doi. 10.1007/s10072-006-0615-x
By:
- Pizzanelli, C.;
- Mancuso, M.;
- Galli, R.;
- Choub, A.;
- Fanin, M.;
- Nascimbeni, A.;
- Siciliano, G.;
- Murri, L.
Publication type:
Article
Oxcarbazepine is effective and safe in the treatment of neuropathic pain: pooled analysis of seven clinical studies.
Published in:
Neurological Sciences, 2005, v. 26, n. 4, p. 218, doi. 10.1007/s10072-005-0464-z
By:
- Magenta, P.;
- Arghetti, S.;
- Di Palma, F.;
- Jann, S.;
- Sterlicchio, M.;
- Bianconi, C.;
- Galimberti, V.;
- Osio, M.;
- Siciliano, G.;
- Cavallotti, G.;
- Sterzi, R.
Publication type:
Article
Cytogenetic damage in peripheral lymphocytes of mitochondrial disease patients.
Published in:
Neurological Sciences, 2000, v. 21, p. S963, doi. 10.1007/s100720070010
By:
- Naccarati, A.;
- Molinu, S.;
- Mancuso, M.;
- Siciliano, G.;
- Migliore, L.
Publication type:
Article
Potential involvement of ubiquinone in myotonic dystrophy pathophysiology: new diagnostic approaches for new rationale therapeutics.
Published in:
Neurological Sciences, 2000, v. 21, p. S979, doi. 10.1007/s100720070014
By:
- Tedeschi, D.;
- Lombardi, V.;
- Mancuso, M.;
- Martelli, F.;
- Sighieri, C.;
- Rocchi, A.;
- Tovani, S.;
- Siciliano, G.;
- Murri, L.
Publication type:
Article
Long-term treatment with idebenone and riboflavin in a patient with MELAS.
Published in:
Neurological Sciences, 2000, v. 21, p. S981, doi. 10.1007/s100720070015
By:
- Napolitano, A.;
- Salvetti, S.;
- Vista, M.;
- Lombardi, V.;
- Siciliano, G.;
- Giraldi, C.
Publication type:
Article
Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies.
Published in:
Neurological Sciences, 2000, v. 21, p. S985, doi. 10.1007/s100720070017
By:
- Siciliano, G.;
- Mancuso, M.;
- Pasquali, L.;
- Manca, M.L.;
- Tessa, A.;
- Iudice, A.
Publication type:
Article
Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies.
Published in:
2000
By:
- Siciliano, G;
- Mancuso, M;
- Pasquali, L;
- Manca, M L;
- Tessa, A;
- Iudice, A
Publication type:
journal article
Long-term treatment with idebenone and riboflavin in a patient with MELAS.
Published in:
2000
By:
- Napolitano, A;
- Salvetti, S;
- Vista, M;
- Lombardi, V;
- Siciliano, G;
- Giraldi, C
Publication type:
journal article
Inclusion body myopathy associated with motor neuron syndrome: three case reports.
Published in:
Clinical Neuropathology, 2005, v. 24, n. 1, p. 36
By:
- Cafforio, G.;
- Pistolesi, S.;
- D'Avino, C.;
- Galluzzi, F.;
- Patricelli, A.;
- Solito, B.;
- Fontanini, G.;
- Siciliano, G.
Publication type:
Article
No evidence for allelic association of serotonin 2A receptor and transporter gene polymorphisms with depression in Alzheimer disease.
Published in:
Journal of Alzheimer's Disease, 2006, v. 10, n. 4, p. 371, doi. 10.3233/JAD-2006-10405
By:
- Micheli, D.;
- Bonvicini, C.;
- Rocchi, A.;
- Ceravolo, R.;
- Mancuso, M.;
- Tognoni, G.;
- Gennarelli, M.;
- Siciliano, G.;
- Murri, L.
Publication type:
Article
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
Published in:
Clinical Genetics, 2012, v. 82, n. 3, p. 232, doi. 10.1111/j.1399-0004.2011.01786.x
By:
- Fanin, M;
- Anichini, A;
- Cassandrini, D;
- Fiorillo, C;
- Scapolan, S;
- Minetti, C;
- Cassanello, M;
- Donati, MA;
- Siciliano, G;
- D'Amico, A;
- Lilliu, F;
- Bruno, C;
- Angelini, C
Publication type:
Article
Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis.
Published in:
Clinical Genetics, 2001, v. 59, n. 5, p. 344, doi. 10.1034/j.1399-0004.2001.590508.x
By:
- Siciliano, G;
- Manca, ML;
- Gennarelli, M;
- Angelini, C;
- Rocchi, A;
- Iudice, A;
- Miorin, M;
- Mostacciuolo, ML
Publication type:
Article
Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation.
Published in:
Clinical Genetics, 1999, v. 56, n. 1, p. 51, doi. 10.1034/j.1399-0004.1999.560107.x
By:
- Siciliano, G;
- Tessa, A;
- Renna, M;
- Manca, ML;
- Mancuso, M;
- Murri, L
Publication type:
Article
EFNS review on the role of muscle biopsy in the investigation of myalgia.
Published in:
European Journal of Neurology, 2013, v. 20, n. 7, p. 997, doi. 10.1111/ene.12174
By:
- Kyriakides, T.;
- Angelini, C.;
- Schaefer, J.;
- Mongini, T.;
- Siciliano, G.;
- Sacconi, S.;
- Joseph, J.;
- Burgunder, J. M.;
- Bindoff, L. A.;
- Vissing, J.;
- Visser, M.;
- Hilton ‐ Jones, D.
Publication type:
Article
Low frequency stimulation of the nucleus tegmenti pedunculopontini increases cortical metabolism in Parkinsonian patients.
Published in:
European Journal of Neurology, 2011, v. 18, n. 6, p. 842, doi. 10.1111/j.1468-1331.2010.03254.x
By:
- Ceravolo, R.;
- Brusa, L.;
- Galati, S.;
- Volterrani, D.;
- Peppe, A.;
- Siciliano, G.;
- Pierantozzi, M.;
- Moschella, V.;
- Bonuccelli, U.;
- Stanzione, P.;
- Stefani, A.
Publication type:
Article
Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases.
Published in:
European Journal of Neurology, 2010, v. 17, n. 9, p. 1178, doi. 10.1111/j.1468-1331.2010.02992.x
By:
- Sansone, Valeria A.;
- Panzeri, M.;
- Montanari, M.;
- Apolone, G.;
- Gandossini, S.;
- Rose, M. R.;
- Politano, L.;
- Solimene, C.;
- Siciliano, G.;
- Volpi, L.;
- Angelini, C.;
- Palmieri, A.;
- Toscano, A.;
- Musumeci, O.;
- Mongini, T.;
- Vercelli, L.;
- Massa, R.;
- Panico, M. B.;
- Grandi, M.;
- Meola, G.
Publication type:
Article
EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.
Published in:
European Journal of Neurology, 2010, v. 17, n. 6, p. 767, doi. 10.1111/j.1468-1331.2010.03012.x
By:
- Kyriakides, T.;
- Angelini, C.;
- Schaefer, J.;
- Sacconi, S.;
- Siciliano, G.;
- Vilchez, J. J.;
- Hilton-Jones, D.
Publication type:
Article
TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.
Published in:
European Journal of Neurology, 2009, v. 16, n. 6, p. 727, doi. 10.1111/j.1468-1331.2009.02574.x
By:
- Del Bo, R.;
- Ghezzi, S.;
- Corti, S.;
- Pandolfo, M.;
- Ranieri, M.;
- Santoro, D.;
- Ghione, I.;
- Prelle, A.;
- Orsetti, V.;
- Mancuso, M.;
- Sorar, G.;
- Briani, C.;
- Angelini, C.;
- Siciliano, G.;
- Bresolin, N.;
- Comi, G. P.
Publication type:
Article
Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions.
Published in:
European Journal of Neurology, 2008, v. 15, n. 12, p. 1353, doi. 10.1111/j.1468-1331.2008.02314.x
By:
- Trevisan, C. P.;
- Pastorello, E.;
- Tomelleri, G.;
- Vercelli, L.;
- Bruno, C.;
- Scapolan, S.;
- Siciliano, G.;
- Comacchio, F.
Publication type:
Article
Dissection and atherosclerosis of carotid arteries in the young: role of the apolipoprotein E polymorphism.
Published in:
European Journal of Neurology, 2002, v. 9, n. 1, p. 19, doi. 10.1046/j.1468-1331.2002.00340.x
By:
- Orlandi, G.;
- Fanucchi, S.;
- Mancuso, M.;
- Gelli, A.;
- Rocchi, A.;
- Siciliano, G.;
- Murri, L.
Publication type:
Article
Clinical and electrophysiological reports in a case of early onset myotonia congenita (Thomsen's disease) successfully treated with mexiletine.
Published in:
1992
By:
- Ceccarelli, M;
- Rossi, B;
- Siciliano, G;
- Calevro, L;
- Tarantino, E
Publication type:
journal article
Insights and participatory actions driven by a socio-hydrogeological approach for groundwater management: the Grombalia Basin case study (Tunisia).
Published in:
Hydrogeology Journal, 2017, v. 25, n. 5, p. 1241, doi. 10.1007/s10040-017-1542-z
By:
- Tringali, C.;
- Re, V.;
- Siciliano, G.;
- Chkir, N.;
- Tuci, C.;
- Zouari, K.
Publication type:
Article
Pes cavus and hereditary neuropathies: when a relationship should be suspected.
Published in:
Journal of Orthopaedics & Traumatology, 2010, v. 11, n. 4, p. 195, doi. 10.1007/s10195-010-0114-y
By:
- Piazza, S.;
- Ricci, G.;
- Caldarazzo Ienco, E.;
- Carlesi, C.;
- Volpi, L.;
- Siciliano, G.;
- Mancuso, M.
Publication type:
Article
Mitochondria, Cognitive Impairment, and Alzheimer's Disease.
Published in:
International Journal of Alzheimer's Disease, 2009, v. 2009, p. 1, doi. 10.4061/2009/951548
By:
- Mancuso, M.;
- Calsolaro, V.;
- Orsucci, D.;
- Carlesi, C.;
- Choub, A.;
- Piazza, S.;
- Siciliano, G.
Publication type:
Article
Altered surface myoelectric signals in peripheral vascular disease: correlations with muscle fiber composition.
Published in:
1998
By:
- Pedrinelli, Roberto;
- Marino, Luciana;
- Dell'Omo, Giulia;
- Siciliano, Gabriele;
- Rossi, Bruno;
- Pedrinelli, R;
- Marino, L;
- Dell'Omo, G;
- Siciliano, G;
- Rossi, B
Publication type:
journal article
Cardiac magnetic resonance imaging and management of dilated cardiomyopathy in a Duchenne muscular dystrophy manifesting carrier.
Published in:
Journal of Neurology, 2009, v. 256, n. 2, p. 283, doi. 10.1007/s00415-009-0055-7
By:
- Barison, A.;
- Aquaro, G. D.;
- Passino, C.;
- Falorni, M.;
- Balbarini, A.;
- Lombardi, M.;
- Pasquali, L.;
- Emdin, M.;
- Siciliano, G.
Publication type:
Article
Antioxidant capacity and protein oxidation in cerebrospinal fluid of amyotrophic lateral sclerosis.
Published in:
Journal of Neurology, 2007, v. 254, n. 5, p. 575, doi. 10.1007/s00415-006-0301-1
By:
- Siciliano, G.;
- Piazza, S.;
- Carlesi, C.;
- Corona, A.;
- Franzini, M.;
- Pompella, A.;
- Malvaldi, G.;
- Mancuso, M.;
- Paolicchi, A.;
- Murri, L.
Publication type:
Article
A case of pelvic floor myoclonic jerk syndrome.
Published in:
Movement Disorders, 1996, v. 11, n. 3, p. 331, doi. 10.1002/mds.870110321
By:
- Ceravolo, R.;
- Nuti, A.;
- Siciliano, G.;
- Calabrese, R.;
- Bonuccelli, U.;
- Cellai, F.
Publication type:
Article
Effects of grating spatial orientation on visual evoked potentials and contrast sensitivity in multiple sclerosis.
Published in:
Acta Neurologica Scandinavica, 2001, v. 103, n. 2, p. 97, doi. 10.1034/j.1600-0404.2001.103002097.x
By:
- Logi, F.;
- Pellegrinetti, A.;
- Bonfiglio, L.;
- Baglini, O.;
- Siciliano, G.;
- Iudice, A.;
- Sartucci, F.
Publication type:
Article
Selective techniques of apheresis in polyneuropathy associated with monoclonal gammopathy of undetermined significance.
Published in:
Acta Neurologica Scandinavica, 1994, v. 89, n. 2, p. 117, doi. 10.1111/j.1600-0404.1994.tb01646.x
By:
- Siciliano, G.;
- Moriconi, L.;
- Gianni, G.;
- Richieri, E.;
- Vignocchi, M. G.;
- Rossi, B.
Publication type:
Article
The role of the tactile-pressure afferents in the habituation phenomenon of trigemino-facial reflex.
Published in:
Acta Neurologica Scandinavica, 1985, v. 72, n. 6, p. 602, doi. 10.1111/j.1600-0404.1985.tb00920.x
By:
- Rossi, B.;
- Giannini, C.;
- Siciliano, G.;
- Sartucci, F.
Publication type:
Article
Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study.
Published in:
Brain: A Journal of Neurology, 2004, v. 127, n. 8, p. 1785, doi. 10.1093/brain/awh201
By:
- L. Guerrini;
- F. Lolli;
- A. Ginestroni;
- G. Belli;
- R. Della Nave;
- C. Tessa;
- S. Foresti;
- M. Cosottini;
- S. Piacentini;
- F. Salvi;
- R. Plasmati;
- D. De Grandis;
- G. Siciliano;
- A. Filla;
- M. Mascalchi
Publication type:
Article
Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient.
Published in:
2023
By:
- Merico, E.;
- Schirinzi, E.;
- Baldinotti, F.;
- Govoni, A.;
- Siciliano, G.
Publication type:
Letter
Ophthalmopathy in chronic inflammatory demyelinating polyradiculoneuropathy: a case report.
Published in:
2023
By:
- Merico, E.;
- Montano, V.;
- Viola, D.;
- Schirinzi, E.;
- Siciliano, G.
Publication type:
Letter
Phenotype modulators in myophosphorylase deficiency.
Published in:
2003
By:
- Martinuzzi A;
- Sartori E;
- Fanin M;
- Nascimbeni A;
- Valente L;
- Angelini C;
- Siciliano G;
- Mongini T;
- Tonin P;
- Tomelleri G;
- Toscano A;
- Merlini L;
- Bindoff LA;
- Bertelli S
Publication type:
Journal Article
Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions.
Published in:
2006
By:
- Forli F;
- Mancuso M;
- Santoro A;
- Dotti MT;
- Siciliano G;
- Berrettini S
Publication type:
Journal Article
Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions.
Published in:
Journal of Laryngology & Otology, 2006, v. 120, n. 10, p. 888, doi. 10.1017/S0022215106001472
By:
- F Forli;
- M Mancuso;
- A Santoro;
- M T Dotti;
- G Siciliano;
- S Berrettini
Publication type:
Article
Recurrent esophageal stricture from previous caustic ingestion treated with 40-year self-dilation: case report and review of literature.
Published in:
2018
By:
- Gambardella, C.;
- Allaria, A.;
- Siciliano, G.;
- Mauriello, C.;
- Patrone, R.;
- Avenia, N.;
- Polistena, A.;
- Sanguinetti, A.;
- Napolitano, S.;
- Conzo, G.
Publication type:
journal article
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.
Published in:
Journal of Neurology, 2022, v. 269, n. 3, p. 1413, doi. 10.1007/s00415-021-10697-1
By:
- Montano, V.;
- Orsucci, D.;
- Carelli, V.;
- La Morgia, C.;
- Valentino, M. L.;
- Lamperti, C.;
- Marchet, S.;
- Musumeci, O.;
- Toscano, A.;
- Primiano, G.;
- Santorelli, F. M.;
- Ticci, C.;
- Filosto, M.;
- Rubegni, A.;
- Mongini, T.;
- Tonin, P.;
- Servidei, S.;
- Ceravolo, R.;
- Siciliano, G.;
- Mancuso, Michelangelo
Publication type:
Article
Oxidative stress biomarkers in Fabry disease: is there a room for them?
Published in:
Journal of Neurology, 2020, v. 267, n. 12, p. 3741, doi. 10.1007/s00415-020-10044-w
By:
- Simoncini, C.;
- Torri, S.;
- Montano, V.;
- Chico, L.;
- Gruosso, F.;
- Tuttolomondo, A.;
- Pinto, A.;
- Simonetta, I.;
- Cianci, V.;
- Salviati, A.;
- Vicenzi, V.;
- Marchi, G.;
- Girelli, D.;
- Concolino, D.;
- Sestito, S.;
- Zedde, M.;
- Siciliano, G.;
- Mancuso, Michelangelo
Publication type:
Article
The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread.
Published in:
Journal of Neurology, 2014, v. 261, p. 528, doi. 10.1007/s00415-014-7387-7
By:
- Mancuso, M.;
- Orsucci, D.;
- Siciliano, G.;
- Bonuccelli, U.
Publication type:
Article
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
Published in:
Journal of Neurology, 2012, v. 259, n. 5, p. 952, doi. 10.1007/s00415-011-6293-5
By:
- Angelini, C.;
- Semplicini, C.;
- Ravaglia, S.;
- Bembi, B.;
- Servidei, S.;
- Pegoraro, E.;
- Moggio, M.;
- Filosto, M.;
- Sette, E.;
- Crescimanno, G.;
- Tonin, P.;
- Parini, R.;
- Morandi, L.;
- Marrosu, G.;
- Greco, G.;
- Musumeci, O.;
- Di Iorio, G.;
- Siciliano, G.;
- Donati, M.;
- Carubbi, F.
Publication type:
Article
Evaluation of cytogenetic and DNA damage in mitochondrial disease patients: effects of coenzyme Q10 therapy.
Published in:
Mutagenesis, 2004, v. 19, n. 1, p. 43, doi. 10.1093/mutage/geg036
By:
- L. Migliore;
- S. Molinu;
- A. Naccarati;
- M. Mancuso;
- A. Rocchi;
- G. Siciliano
Publication type:
Article

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