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Items: 31

1.

An observational study of functional abilities in infants, children, and adults with type 1 SMA.

Pane M, Palermo C, Messina S, Sansone VA, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D'Amico A, Brigati G, de Sanctis R, Coratti G, Lucibello S, Bertini E, Vita G, Danilo Tiziano F, Mercuri E; Italian EAP Working Group.

Neurology. 2018 Aug 21;91(8):e696-e703. doi: 10.1212/WNL.0000000000006050. Epub 2018 Jul 25.

PMID:
30045959
2.

Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function.

Pane M, Palermo C, Messina S, Sansone VA, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D'Amico A, Brigati G, de Sanctis R, Coratti G, Lucibello S, Bertini E, Vita G, Tiziano FD, Mercuri E; Italian EAP working group.

Neuromuscul Disord. 2018 Jul;28(7):582-585. doi: 10.1016/j.nmd.2018.05.010. Epub 2018 Jun 1.

PMID:
29960818
3.

Passive Versus Active Circuit During Invasive Mechanical Ventilation in Subjects With Amyotrophic Lateral Sclerosis.

De Mattia E, Falcier E, Lizio A, Lunetta C, Sansone VA, Barbarito N, Garabelli B, Iatomasi M, Roma E, Rao F, Carlucci A.

Respir Care. 2018 Sep;63(9):1132-1138. doi: 10.4187/respcare.05866. Epub 2018 May 15.

PMID:
29765003
4.

A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1" written by pechmann and colleagues".

Sansone VA, Pane M, Messina S, Bruno C, D'Amico A, Albamonte E, Catteruccia M, Sframeli M, Pedemonte M, Vita G, Bertini E, Mercuri E; Italian ISMAc Group.

Eur J Paediatr Neurol. 2018 Jul;22(4):729-731. doi: 10.1016/j.ejpn.2018.02.004. Epub 2018 Feb 19. No abstract available.

PMID:
29673809
5.

Being Yourself and Thinking About the Future in People With Motor Neuron Disease: A Grounded Theory of Self-care Processes.

Bassola B, Sansone VA, Lusignani M.

J Neurosci Nurs. 2018 Jun;50(3):138-143. doi: 10.1097/JNN.0000000000000366.

PMID:
29652734
6.

Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis.

Mandrioli J, Ferri L, Fasano A, Zucchi E, Fini N, Moglia C, Lunetta C, Marinou K, Ticozzi N, Drago Ferrante G, Scialo C, Sorarù G, Trojsi F, Conte A, Falzone YM, Tortelli R, Russo M, Sansone VA, Mora G, Silani V, Volanti P, Caponnetto C, Querin G, Monsurrò MR, Sabatelli M, Chiò A, Riva N, Logroscino G, Messina S, Calvo A.

Eur J Neurol. 2018 Jun;25(6):861-868. doi: 10.1111/ene.13620. Epub 2018 Apr 15.

PMID:
29512869
7.

Review of the Diagnosis and Treatment of Periodic Paralysis.

Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC.

Muscle Nerve. 2018 Apr;57(4):522-530. doi: 10.1002/mus.26009. Epub 2017 Nov 29. Review.

8.

Comorbidity of dementia with amyotrophic lateral sclerosis (ALS): insights from a large multicenter Italian cohort.

Trojsi F, Siciliano M, Femiano C, Santangelo G, Lunetta C, Calvo A, Moglia C, Marinou K, Ticozzi N, Drago Ferrante G, Scialò C, Sorarù G, Conte A, Falzone YM, Tortelli R, Russo M, Sansone VA, Chiò A, Mora G, Poletti B, Volanti P, Caponnetto C, Querin G, Sabatelli M, Riva N, Logroscino G, Messina S, Fasano A, Monsurrò MR, Tedeschi G, Mandrioli J.

J Neurol. 2017 Nov;264(11):2224-2231. doi: 10.1007/s00415-017-8619-4. Epub 2017 Sep 15.

PMID:
28914354
9.

The Myotonic Dystrophy Health Index: Italian validation of a disease-specific outcome measure.

Sansone VA, Lizio A, Greco L, Gragnano G, Zanolini A, Gualandris M, Iatomasi M, Heatwole C.

Neuromuscul Disord. 2017 Nov;27(11):1047-1053. doi: 10.1016/j.nmd.2017.07.004. Epub 2017 Jul 10.

PMID:
28890289
10.

Inflammatory role of dendritic cells in Amyotrophic Lateral Sclerosis revealed by an analysis of patients' peripheral blood.

Rusconi M, Gerardi F, Santus W, Lizio A, Sansone VA, Lunetta C, Zanoni I, Granucci F.

Sci Rep. 2017 Aug 10;7(1):7853. doi: 10.1038/s41598-017-08233-1.

11.

Use of the Intermittent Abdominal Pressure Ventilation to guarantee speech in a tracheostomized Amyotrophic Lateral Sclerosis patient.

De Mattia E, Iatomasi M, Garabelli B, Lunetta C, Sansone VA, Rao F.

Rev Port Pneumol (2006). 2017 Jul - Aug;23(4):236-239. doi: 10.1016/j.rppnen.2017.03.002. Epub 2017 May 31. No abstract available.

12.

Respiratory involvement in neuromuscular disorders.

Boentert M, Wenninger S, Sansone VA.

Curr Opin Neurol. 2017 Oct;30(5):529-537. doi: 10.1097/WCO.0000000000000470. Review.

PMID:
28562381
13.

Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations.

Mandrioli J, Michalke B, Solovyev N, Grill P, Violi F, Lunetta C, Conte A, Sansone VA, Sabatelli M, Vinceti M.

Neurodegener Dis. 2017;17(4-5):171-180. doi: 10.1159/000460253. Epub 2017 May 6.

PMID:
28478440
14.

Serum C-Reactive Protein as a Prognostic Biomarker in Amyotrophic Lateral Sclerosis.

Lunetta C, Lizio A, Maestri E, Sansone VA, Mora G, Miller RG, Appel SH, Chiò A.

JAMA Neurol. 2017 Jun 1;74(6):660-667. doi: 10.1001/jamaneurol.2016.6179.

15.

The Dystrophic and Nondystrophic Myotonias.

Sansone VA.

Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1889-1915. Review.

PMID:
27922499
16.

Factors predicting survival in ALS: a multicenter Italian study.

Calvo A, Moglia C, Lunetta C, Marinou K, Ticozzi N, Ferrante GD, Scialo C, Sorarù G, Trojsi F, Conte A, Falzone YM, Tortelli R, Russo M, Chiò A, Sansone VA, Mora G, Silani V, Volanti P, Caponnetto C, Querin G, Monsurrò MR, Sabatelli M, Riva N, Logroscino G, Messina S, Fini N, Mandrioli J.

J Neurol. 2017 Jan;264(1):54-63. doi: 10.1007/s00415-016-8313-y. Epub 2016 Oct 24.

PMID:
27778156
17.

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.

Sansone VA, Burge J, McDermott MP, Smith PC, Herr B, Tawil R, Pandya S, Kissel J, Ciafaloni E, Shieh P, Ralph JW, Amato A, Cannon SC, Trivedi J, Barohn R, Crum B, Mitsumoto H, Pestronk A, Meola G, Conwit R, Hanna MG, Griggs RC; Muscle Study Group.

Neurology. 2016 Apr 12;86(15):1408-1416. doi: 10.1212/WNL.0000000000002416. Epub 2016 Feb 10.

18.

Strictly monitored exercise programs reduce motor deterioration in ALS: preliminary results of a randomized controlled trial.

Lunetta C, Lizio A, Sansone VA, Cellotto NM, Maestri E, Bettinelli M, Gatti V, Melazzini MG, Meola G, Corbo M.

J Neurol. 2016 Jan;263(1):52-60.

PMID:
26477027
19.

Amyotrophic Lateral Sclerosis Survival Score (ALS-SS): A simple scoring system for early prediction of patient survival.

Lunetta C, Lizio A, Melazzini MG, Maestri E, Sansone VA.

Amyotroph Lateral Scler Frontotemporal Degener. 2015;17(1-2):93-100. doi: 10.3109/21678421.2015.1083585. Epub 2015 Oct 16.

PMID:
26470943
20.

1st Italian SMA Family Association Consensus Meeting: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015.

Sansone VA, Racca F, Ottonello G, Vianello A, Berardinelli A, Crescimanno G, Casiraghi JL; Italian SMA Family Association.

Neuromuscul Disord. 2015 Dec;25(12):979-89. doi: 10.1016/j.nmd.2015.09.009. Epub 2015 Sep 18. No abstract available.

PMID:
26453142
21.

Gonadal failure is associated with visceral adiposity in myotonic dystrophies.

Passeri E, Bugiardini E, Sansone VA, Pizzocaro A, Fulceri C, Valaperta R, Borgato S, Costa E, Bandera F, Ambrosi B, Meola G, Persani L, Corbetta S.

Eur J Clin Invest. 2015 Jul;45(7):702-10. doi: 10.1111/eci.12459. Epub 2015 Jun 1.

PMID:
25950257
22.

207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: management and implications for research, 27-29 June 2014, Naarden, The Netherlands.

Sansone VA, Gagnon C; participants of the 207th ENMC Workshop.

Neuromuscul Disord. 2015 May;25(5):432-42. doi: 10.1016/j.nmd.2015.01.011. Epub 2015 Feb 3. No abstract available.

PMID:
25728518
23.

Asymptomatic myotonia congenita unmasked by severe hypothyroidism.

Passeri E, Sansone VA, Verdelli C, Mendola M, Corbetta S.

Neuromuscul Disord. 2014 Apr;24(4):365-7. doi: 10.1016/j.nmd.2014.01.006. Epub 2014 Jan 24.

PMID:
24530047
24.

Amyotrophic lateral sclerosis in pregnancy is associated with a vascular endothelial growth factor promoter genotype.

Lunetta C, Sansone VA, Penco S, Mosca L, Tarlarini C, Avemaria F, Maestri E, Melazzini MG, Meola G, Corbo M.

Eur J Neurol. 2014 Apr;21(4):594-8. doi: 10.1111/ene.12345. Epub 2014 Jan 28.

PMID:
24471417
25.

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.

Ulzi G, Sansone VA, Magri F, Corti S, Bresolin N, Comi GP, Lucchiari S.

Mol Biol Rep. 2014 May;41(5):2865-74. doi: 10.1007/s11033-014-3142-5. Epub 2014 Jan 23.

PMID:
24452722
26.

Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies.

Passeri E, Bugiardini E, Sansone VA, Valaperta R, Costa E, Ambrosi B, Meola G, Corbetta S.

J Neurol Sci. 2013 Aug 15;331(1-2):132-5. doi: 10.1016/j.jns.2013.06.008. Epub 2013 Jun 25.

PMID:
23809192
27.

The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): long-term outcomes.

Sansone VA, Brigonzi E, Schoser B, Villani S, Gaeta M, De Ambroggi G, Bandera F, De Ambroggi L, Meola G.

Int J Cardiol. 2013 Sep 30;168(2):1147-53. doi: 10.1016/j.ijcard.2012.11.076. Epub 2012 Dec 23.

PMID:
23266299
28.

Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial.

Statland JM, Bundy BN, Wang Y, Rayan DR, Trivedi JR, Sansone VA, Salajegheh MK, Venance SL, Ciafaloni E, Matthews E, Meola G, Herbelin L, Griggs RC, Barohn RJ, Hanna MG; Consortium for Clinical Investigation of Neurologic Channelopathies.

JAMA. 2012 Oct 3;308(13):1357-65. doi: 10.1001/jama.2012.12607.

29.

Measuring quality of life impairment in skeletal muscle channelopathies.

Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G; INQoL Group.

Eur J Neurol. 2012 Nov;19(11):1470-6. doi: 10.1111/j.1468-1331.2012.03751.x. Epub 2012 May 19.

30.

Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases.

Sansone VA, Panzeri M, Montanari M, Apolone G, Gandossini S, Rose MR, Politano L, Solimene C, Siciliano G, Volpi L, Angelini C, Palmieri A, Toscano A, Musumeci O, Mongini T, Vercelli L, Massa R, Panico MB, Grandi M, Meola G.

Eur J Neurol. 2010 Sep;17(9):1178-87. doi: 10.1111/j.1468-1331.2010.02992.x. Epub 2010 Mar 30.

PMID:
20374278
31.

Long-term follow-up free of ventricular fibrillation recurrence after resuscitated cardiac arrest in a myotonic dystrophy type 1 patient.

Sansone VA, De Ambroggi G, Zanolini A, Panzeri M, Sardanelli F, Cappato R, Meola G, De Ambroggi L.

Europace. 2009 Sep;11(9):1243-4. doi: 10.1093/europace/eup155. Epub 2009 Jun 25.

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