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Items: 1 to 50 of 216

1.

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

Nicita F, Stregapede F, Tessa A, Bassi MT, Jezela-Stanek A, Primiano G, Pizzuti A, Barghigiani M, Nardella M, Zanni G, Servidei S, Astrea G, Panzeri E, Maghini C, Losito L, Ploski R, Gasperowicz P, Santorelli FM, Bertini E, Travaglini L.

J Neurol. 2019 Jul 13. doi: 10.1007/s00415-019-09466-y. [Epub ahead of print]

PMID:
31302745
2.

Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.

Strafella C, Campoli G, Galota RM, Caputo V, Pagliaroli G, Carboni S, Zampatti S, Peconi C, Mela J, Sancricca C, Primiano G, Minozzi G, Servidei S, Cascella R, Giardina E.

Front Neurol. 2019 Jun 13;10:619. doi: 10.3389/fneur.2019.00619. eCollection 2019.

3.

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.

Filosto M, Cotti Piccinelli S, Ravaglia S, Servidei S, Moggio M, Musumeci O, Donati MA, Pegoraro E, Di Muzio A, Maggi L, Tonin P, Marrosu G, Sancricca C, Lerario A, Sacchini M, Semplicini C, Bozzoni V, Telese R, Bonanno S, Piras R, Maioli MA, Ricci G, Vercelli L, Galvagni A, Gallo Cassarino S, Caria F, Mongini T, Siciliano G, Padovani A, Toscano A.

Adv Ther. 2019 May;36(5):1177-1189. doi: 10.1007/s12325-019-00926-5. Epub 2019 Mar 16.

PMID:
30879255
4.

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.

Musumeci O, Barca E, Lamperti C, Servidei S, Comi GP, Moggio M, Mongini T, Siciliano G, Filosto M, Pegoraro E, Primiano G, Ronchi D, Vercelli L, Orsucci D, Bello L, Zeviani M, Mancuso M, Toscano A.

Front Neurol. 2019 Feb 27;10:160. doi: 10.3389/fneur.2019.00160. eCollection 2019.

5.

Muscle pain in mitochondrial diseases: a picture from the Italian network.

Filosto M, Cotti Piccinelli S, Lamperti C, Mongini T, Servidei S, Musumeci O, Tonin P, Santorelli FM, Simoncini C, Primiano G, Vercelli L, Rubegni A, Galvagni A, Moggio M, Comi GP, Carelli V, Toscano A, Padovani A, Siciliano G, Mancuso M.

J Neurol. 2019 Apr;266(4):953-959. doi: 10.1007/s00415-019-09219-x. Epub 2019 Feb 2.

PMID:
30710167
6.

Sudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre.

Luigetti M, Bisogni G, Romano A, Di Paolantonio A, Barbato F, Primicerio G, Rossini PM, Servidei S, Sabatelli M.

Amyloid. 2018 Dec;25(4):242-246. doi: 10.1080/13506129.2018.1545640. Epub 2019 Jan 14.

PMID:
30638075
7.

Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation.

Bargagli M, Primiano G, Primiano A, Gervasoni J, Naticchia A, Servidei S, Gambaro G, Ferraro PM.

Urolithiasis. 2018 Nov 7. doi: 10.1007/s00240-018-1087-1. [Epub ahead of print] No abstract available.

PMID:
30406307
8.

Epilepsy management in mitochondrial diseases.

Primiano G, Vollono C, Dono F, Servidei S.

Epilepsy Res. 2018 Nov;147:108. doi: 10.1016/j.eplepsyres.2018.09.004. Epub 2018 Sep 25. No abstract available.

PMID:
30266218
9.

Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy.

Luigetti M, Primiano G, Bisogni G, Cuccagna C, Carrozzo R, Obici L, Bernardo D, Sancricca C, Servidei S.

Amyloid. 2018 Dec;25(4):261-262. doi: 10.1080/13506129.2018.1506919. Epub 2018 Sep 7. No abstract available.

PMID:
30193540
10.

Reply to "Work-up for mitochondrial small fiber neuropathy requires application of skin biopsies".

Luigetti M, Primiano G, Servidei S.

Clin Neurophysiol. 2018 Sep;129(9):2053. doi: 10.1016/j.clinph.2018.07.001. Epub 2018 Jul 11. No abstract available.

PMID:
30025801
11.

Nutritional support in mitochondrial diseases: the state of the art.

Rinninella E, Pizzoferrato M, Cintoni M, Servidei S, Mele MC.

Eur Rev Med Pharmacol Sci. 2018 Jul;22(13):4288-4298. doi: 10.26355/eurrev_201807_15425.

12.

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.

Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M.

Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29.

13.

The Bacterial Protein CNF1 as a Potential Therapeutic Strategy against Mitochondrial Diseases: A Pilot Study.

Fabbri A, Travaglione S, Maroccia Z, Guidotti M, Pierri CL, Primiano G, Servidei S, Loizzo S, Fiorentini C.

Int J Mol Sci. 2018 Jun 21;19(7). pii: E1825. doi: 10.3390/ijms19071825.

14.

Small fibre neuropathy in mitochondrial diseases explored with sudoscan.

Luigetti M, Primiano G, Cuccagna C, Bernardo D, Sauchelli D, Vollono C, Servidei S.

Clin Neurophysiol. 2018 Aug;129(8):1618-1623. doi: 10.1016/j.clinph.2018.04.755. Epub 2018 Jun 1.

PMID:
29890373
15.

Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.

Monforte M, Primiano G, Silvestri G, Mirabella M, Luigetti M, Cuccagna C, Ricci E, Servidei S, Tasca G.

J Neurol. 2018 Mar;265(3):542-551. doi: 10.1007/s00415-018-8741-y. Epub 2018 Jan 22.

PMID:
29356967
16.

Drug-resistant epilepsy in MELAS: safety and potential efficacy of lacosamide.

Primiano G, Vollono C, Dono F, Servidei S.

Epilepsy Res. 2018 Jan;139:135-136. doi: 10.1016/j.eplepsyres.2017.12.001. Epub 2017 Dec 6. No abstract available.

PMID:
29223780
17.

6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction.

Pera MC, Luigetti M, Pane M, Coratti G, Forcina N, Fanelli L, Mazzone ES, Antonaci L, Lapenta L, Palermo C, Ranalli D, Granata G, Lomonaco M, Servidei S, Mercuri E.

Neuromuscul Disord. 2017 Oct;27(10):879-882. doi: 10.1016/j.nmd.2017.07.007. Epub 2017 Jul 14. Review.

PMID:
28803817
18.

Migraine in mitochondrial disorders: Prevalence and characteristics.

Vollono C, Primiano G, Della Marca G, Losurdo A, Servidei S.

Cephalalgia. 2018 May;38(6):1093-1106. doi: 10.1177/0333102417723568. Epub 2017 Aug 1.

PMID:
28762753
19.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Ardissone A, Bello L, Bruno C, Ienco EC, Diodato D, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Primiano G, Ronchi D, Rubegni A, Salvatore S, Sciacco M, Valentino ML, Vercelli L, Toscano A, Zeviani M, Siciliano G, Mancuso M.

J Neurol. 2017 Aug;264(8):1777-1784. doi: 10.1007/s00415-017-8567-z. Epub 2017 Jul 10.

PMID:
28695364
20.

Recurrent miller fisher: a new case report and a literature review.

Barbato F, Di Paolantonio A, Distefano M, Mastrorosa A, Sabatelli M, Servidei S, Luigetti M.

Clin Ter. 2017 May-Jun;168(3):e208-e213. doi: 10.7417/T.2017.2008. Review.

21.

To the Editor.

Monforte M, Servidei S, Ricci E, Tasca G.

Can J Neurol Sci. 2017 Jul;44(4):463-464. doi: 10.1017/cjn.2016.447. Epub 2017 Feb 1. No abstract available.

PMID:
28143629
22.

O035. Headaches in Mitochondrial Disorders.

Vollono C, Primiano G, Losurdo A, Servidei S, Della Marca G.

J Headache Pain. 2015 Dec;16(Suppl 1):A68. doi: 10.1186/1129-2377-16-S1-A68. No abstract available.

23.

Intestinal pseudo-obstruction in mitochondrial diseases.

Primiano G, Servidei S.

Ann Neurol. 2017 Jan;81(1):158-159. doi: 10.1002/ana.24816. Epub 2016 Nov 30. No abstract available.

PMID:
27804144
24.

Mitochondrial neuropathy: considerations on pathogenesis.

Luigetti M, Sauchelli D, Primiano G, Cuccagna C, Bernardo D, Lo Monaco M, Servidei S.

Eur J Neurol. 2016 Aug;23(8):e55. doi: 10.1111/ene.13049. No abstract available.

PMID:
27431029
25.

Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience.

Luigetti M, Sauchelli D, Primiano G, Cuccagna C, Bernardo D, Lo Monaco M, Servidei S.

Eur J Neurol. 2016 Jun;23(6):1020-7. doi: 10.1111/ene.12954. Epub 2016 Jan 29.

PMID:
26822221
26.

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco EC, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2015 Dec;262(12):2800. doi: 10.1007/s00415-015-7943-9. No abstract available.

PMID:
26566910
27.

Admission neurophysiological abnormalities in Guillain-Barré syndrome: A single-center experience.

Luigetti M, Servidei S, Modoni A, Rossini PM, Sabatelli M, Lo Monaco M.

Clin Neurol Neurosurg. 2015 Aug;135:6-10. doi: 10.1016/j.clineuro.2015.05.001. Epub 2015 May 11.

PMID:
26001516
28.

Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features.

Luigetti M, Lo Monaco M, Mirabella M, Primiano G, Lucchini M, Monforte M, Servidei S.

Clin Neurophysiol. 2015 Dec;126(12):2406-8. doi: 10.1016/j.clinph.2015.03.005. Epub 2015 Mar 20. Review. No abstract available.

PMID:
25842253
29.

Redefining phenotypes associated with mitochondrial DNA single deletion.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Caldarazzo Ienco E, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2015 May;262(5):1301-9. doi: 10.1007/s00415-015-7710-y. Epub 2015 Mar 26. Erratum in: J Neurol. 2015 Dec;262(12):2800.

PMID:
25808502
30.

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A; Italian GSD II group.

J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):5-11. doi: 10.1136/jnnp-2014-310164. Epub 2015 Mar 17.

PMID:
25783438
31.

"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.

Catteruccia M, Sauchelli D, Della Marca G, Primiano G, Cuccagna C, Bernardo D, Leo M, Camporeale A, Sanna T, Cianfoni A, Servidei S.

J Neurol. 2015 Mar;262(3):701-10. doi: 10.1007/s00415-014-7632-0. Epub 2015 Jan 6.

PMID:
25559684
32.

Frequency of Cerebrovascular Abnormalities in Patients with Late-Onset Pompe Disease: Our Experience.

Sancricca C, Primiano G, Bernardo D, Sauchelli D, Cuccagna C, Servidei S.

J Neuromuscul Dis. 2015;2(s1):S55-S56. No abstract available.

PMID:
27858647
33.

Changing Characteristics of Late-Onset Pompe Disease Patients in Italy: Data from the Pompe Registry.

Angelini C, Bembi B, Burlina A, Filosto M, Maioli MA, Morandi LO, Parini R, Pegoraro E, Ravaglia S, Servidei S, Toscano A, Tugnoli V.

J Neuromuscul Dis. 2015;2(s1):S36-S37. No abstract available.

PMID:
27858631
34.

Copper deficiency myelopathy: A report of two cases.

Plantone D, Primiano G, Renna R, Restuccia D, Iorio R, Patanella KA, Ferilli MN, Servidei S.

J Spinal Cord Med. 2015 Jul;38(4):559-62. doi: 10.1179/2045772314Y.0000000268. Epub 2014 Oct 24.

35.

A Case of Hemiabdominal Myoclonus.

Nociti V, Servidei S, Luigetti M, Iorio R, Lo Monaco M, Mirabella M, Frisullo G, Della Marca G.

Clin EEG Neurosci. 2015 Oct;46(4):331-4. doi: 10.1177/1550059414533950. Epub 2014 Oct 8.

PMID:
25301885
36.

Creutzfeldt-Jakob disease manifesting as stroke mimic in a 78-year-old patient: pitfalls and tips in the diagnosis.

Damato V, Cuccagna C, Costantini EM, Gaudino S, Colosimo C, Parchi P, Servidei S, Luigetti M.

J Neurol Sci. 2014 Nov 15;346(1-2):343-4. doi: 10.1016/j.jns.2014.08.026. Epub 2014 Aug 27. No abstract available.

PMID:
25201717
37.

Genotype-phenotype correlation in Pompe disease, a step forward.

De Filippi P, Saeidi K, Ravaglia S, Dardis A, Angelini C, Mongini T, Morandi L, Moggio M, Di Muzio A, Filosto M, Bembi B, Giannini F, Marrosu G, Rigoldi M, Tonin P, Servidei S, Siciliano G, Carlucci A, Scotti C, Comelli M, Toscano A, Danesino C.

Orphanet J Rare Dis. 2014 Aug 8;9:102. doi: 10.1186/s13023-014-0102-z.

38.

Acute refractory intestinal pseudo-obstruction in MELAS: efficacy of prucalopride.

Primiano G, Plantone D, Forte F, Sauchelli D, Scaldaferri F, Gasbarrini A, Servidei S.

Neurology. 2014 May 27;82(21):1932-4. doi: 10.1212/WNL.0000000000000458. Epub 2014 Apr 30. No abstract available.

PMID:
24789860
39.

Myoclonus in mitochondrial disorders.

Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G.

Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7.

PMID:
24510442
40.

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco EC, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2014 Mar;261(3):504-10. doi: 10.1007/s00415-013-7225-3. Epub 2013 Dec 29.

PMID:
24375076
41.

Rasmussen encephalitis: an unusual cause for intractable seizures in elderly.

Iodice F, Luigetti M, Colosimo C, Servidei S, Mirabella M.

Neurol Sci. 2014 Jan;35(1):143-5. doi: 10.1007/s10072-013-1549-8. Epub 2013 Sep 18. No abstract available.

PMID:
24045872
42.

Subacute combined degeneration.

Luigetti M, Pravatà E, Bernardo D, Izzo MG, Servidei S.

Acta Neurol Belg. 2014 Sep;114(3):221-2. doi: 10.1007/s13760-013-0231-5. Epub 2013 Jul 11. No abstract available.

PMID:
23843196
43.

Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency.

Vianello A, Semplicini C, Paladini L, Concas A, Ravaglia S, Servidei S, Toscano A, Mongini T, Angelini C, Pegoraro E.

Lung. 2013 Oct;191(5):537-44. doi: 10.1007/s00408-013-9489-x. Epub 2013 Jul 10.

PMID:
23839583
44.

Midbrain panda sign in a patient with Wilson's disease.

Plantone D, Primiano G, Servidei S.

Intern Med. 2013;52(11):1285. No abstract available.

45.

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Caldarazzo Ienco E, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

Neurology. 2013 May 28;80(22):2049-54. doi: 10.1212/WNL.0b013e318294b44c. Epub 2013 May 1.

PMID:
23635963
46.

Sleep disordered breathing in a cohort of patients with sporadic inclusion body myositis.

Della Marca G, Sancricca C, Losurdo A, Di Blasi C, De Fino C, Morosetti R, Broccolini A, Testani E, Scarano E, Servidei S, Mirabella M.

Clin Neurophysiol. 2013 Aug;124(8):1615-21. doi: 10.1016/j.clinph.2013.03.002. Epub 2013 Apr 11.

PMID:
23583020
47.

Osteoma of the internal auditory canal.

Plantone D, Renna R, Primiano G, Servidei S.

Intern Med. 2013;52(7):839. Epub 2013 Apr 1. No abstract available.

48.

A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies.

D'Amico A, Fattori F, Bellacchio E, Catteruccia M, Servidei S, Bertini E.

Neuromuscul Disord. 2013 May;23(5):437-40. doi: 10.1016/j.nmd.2013.02.011. Epub 2013 Mar 13.

49.

Neurological picture. Bilateral thoracic long nerve involvement in motor multifocal neuropathy.

Luigetti M, Cianfoni A, Servidei S, Mirabella M.

J Neurol Neurosurg Psychiatry. 2013 May;84(5):584. doi: 10.1136/jnnp-2012-304851. Epub 2013 Jan 31. No abstract available.

PMID:
23370616
50.

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.

Mancuso M, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Zeviani M, Siciliano G; Nation-wide Italian Collaborative Network of Mitochondrial Diseases.

Neuromuscul Disord. 2012 Dec;22 Suppl 3:S226-9. doi: 10.1016/j.nmd.2012.10.012. Review.

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