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Items: 1 to 50 of 491

1.

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.

Brusa R, Magri F, Papadimitriou D, Govoni A, Del Bo R, Ciscato P, Savarese M, Cinnante C, Walter MC, Abicht A, Bulst S, Corti S, Moggio M, Bresolin N, Nigro V, Comi GP.

Neuromuscul Disord. 2018 Apr 13. pii: S0960-8966(17)31376-7. doi: 10.1016/j.nmd.2018.04.006. [Epub ahead of print]

PMID:
29759638
2.

Brain Mitochondria, Aging, and Parkinson's Disease.

Rango M, Bresolin N.

Genes (Basel). 2018 May 11;9(5). pii: E250. doi: 10.3390/genes9050250. Review.

3.

Clinical Reasoning: A 75-year-old man with parkinsonism, mood depression, and weight loss.

Frattini E, Monfrini E, Bitetto G, Ferrari B, Arcudi S, Bresolin N, Saetti MC, Di Fonzo A.

Neurology. 2018 Mar 20;90(12):572-575. doi: 10.1212/WNL.0000000000005177. No abstract available.

PMID:
29555883
4.

Paroxysmal Nocturnal Hemoglobinuria (Pnh): Brain Mri Ischemic Lesions In Neurologically Asymtomatic Patients.

Barcellini W, Scola E, Lanfranconi S, Grottaroli M, Binda F, Fattizzo B, Zaninoni A, Valcamonica G, Cinnante CM, Boschetti C, Buoli M, Altamura CA, Bresolin N, Triulzi F, Zanella A, Cortelezzi A.

Sci Rep. 2018 Jan 11;8(1):476. doi: 10.1038/s41598-017-18936-0.

5.

Investigation of New Morpholino Oligomers to Increase Survival Motor Neuron Protein Levels in Spinal Muscular Atrophy.

Ramirez A, Crisafulli SG, Rizzuti M, Bresolin N, Comi GP, Corti S, Nizzardo M.

Int J Mol Sci. 2018 Jan 6;19(1). pii: E167. doi: 10.3390/ijms19010167.

6.

A de novo C19orf12 heterozygous mutation in a patient with MPAN.

Monfrini E, Melzi V, Buongarzone G, Franco G, Ronchi D, Dilena R, Scola E, Vizziello P, Bordoni A, Bresolin N, Comi GP, Corti S, Di Fonzo A.

Parkinsonism Relat Disord. 2018 Mar;48:109-111. doi: 10.1016/j.parkreldis.2017.12.025. Epub 2017 Dec 27. No abstract available.

PMID:
29295770
7.

Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.

Ronchi D, Piga D, Lamberti S, Sciacco M, Corti S, Moggio M, Bresolin N, Pietro Comi G.

Brain. 2018 Jan 1;141(1):e4. doi: 10.1093/brain/awx302. No abstract available.

PMID:
29228135
8.

Progressive Encephalomyelitis with Rigidity and Myoclonus Associated With Anti-GlyR Antibodies and Hodgkin's Lymphoma: A Case Report.

Borellini L, Lanfranconi S, Bonato S, Trezzi I, Franco G, Torretta L, Bresolin N, Di Fonzo AB.

Front Neurol. 2017 Aug 10;8:401. doi: 10.3389/fneur.2017.00401. eCollection 2017.

9.

Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample.

Colombo P, Nobile M, Tesei A, Civati F, Gandossini S, Mani E, Molteni M, Bresolin N, D'Angelo G.

Eur J Paediatr Neurol. 2017 Jul;21(4):639-647. doi: 10.1016/j.ejpn.2017.02.007. Epub 2017 Mar 24.

PMID:
28392227
10.

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.

Rizzo F, Ramirez A, Compagnucci C, Salani S, Melzi V, Bordoni A, Fortunato F, Niceforo A, Bresolin N, Comi GP, Bertini E, Nizzardo M, Corti S.

Sci Rep. 2017 Apr 6;7:46271. doi: 10.1038/srep46271.

11.

Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.

Buongarzone G, Monfrini E, Franco G, Trezzi I, Borellini L, Frattini E, Melzi V, Di Caprio AC, Ronchi D, Monzio Compagnoni G, Cogiamanian F, Ardolino G, Bresolin N, Comi GP, Corti S, Di Fonzo A.

Parkinsonism Relat Disord. 2017 Jun;39:87-88. doi: 10.1016/j.parkreldis.2017.03.007. Epub 2017 Mar 9. No abstract available.

PMID:
28318986
12.

Anti-sulfatide reactivity in patients with celiac disease.

Saccomanno D, Tomba C, Magri F, Backelandt P, Roncoroni L, Doneda L, Bardella MT, Comi GP, Bresolin N, Conte D, Elli L.

Scand J Gastroenterol. 2017 Apr;52(4):409-413. doi: 10.1080/00365521.2016.1263679. Epub 2016 Dec 1.

13.

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.

Magri F, Nigro V, Angelini C, Mongini T, Mora M, Moroni I, Toscano A, D'angelo MG, Tomelleri G, Siciliano G, Ricci G, Bruno C, Corti S, Musumeci O, Tasca G, Ricci E, Monforte M, Sciacco M, Fiorillo C, Gandossini S, Minetti C, Morandi L, Savarese M, Fruscio GD, Semplicini C, Pegoraro E, Govoni A, Brusa R, Del Bo R, Ronchi D, Moggio M, Bresolin N, Comi GP.

Muscle Nerve. 2017 Jan;55(1):55-68. doi: 10.1002/mus.25192. Epub 2016 Oct 28.

14.

Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.

Rizzo F, Ronchi D, Salani S, Nizzardo M, Fortunato F, Bordoni A, Stuppia G, Del Bo R, Piga D, Fato R, Bresolin N, Comi GP, Corti S.

Hum Mol Genet. 2016 Oct 1;25(19):4266-4281. doi: 10.1093/hmg/ddw258. Epub 2016 Aug 9.

PMID:
27506976
15.

Mutational analysis of COQ2 in patients with MSA in Italy.

Ronchi D, Di Biase E, Franco G, Melzi V, Del Sorbo F, Elia A, Barzaghi C, Garavaglia B, Bergamini C, Fato R, Mora G, Del Bo R, Fortunato F, Borellini L, Trezzi I, Compagnoni GM, Monfrini E, Frattini E, Bonato S, Cogiamanian F, Ardolino G, Priori A, Bresolin N, Corti S, Comi GP, Di Fonzo A.

Neurobiol Aging. 2016 Sep;45:213.e1-213.e2. doi: 10.1016/j.neurobiolaging.2016.05.022. Epub 2016 Jun 7.

PMID:
27394078
16.

Nutritional status as a predictor of duration of mechanical ventilation in critically ill children.

Grippa RB, Silva PS, Barbosa E, Bresolin NL, Mehta NM, Moreno YM.

Nutrition. 2017 Jan;33:91-95. doi: 10.1016/j.nut.2016.05.002. Epub 2016 May 17.

17.

Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders.

Mis MSC, Brajkovic S, Tafuri F, Bresolin N, Comi GP, Corti S.

Mol Neurobiol. 2017 Aug;54(6):4466-4476. doi: 10.1007/s12035-016-9993-0. Epub 2016 Jun 28. Review.

18.

iPSC-derived LewisX+CXCR4+╬▓1-integrin+ neural stem cells improve the amyotrophic lateral sclerosis phenotype by preserving motor neurons and muscle innervation in human and rodent models.

Nizzardo M, Bucchia M, Ramirez A, Trombetta E, Bresolin N, Comi GP, Corti S.

Hum Mol Genet. 2016 Aug 1;25(15):3152-3163. doi: 10.1093/hmg/ddw163. Epub 2016 Jun 6.

PMID:
27270413
19.

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

Piga D, Magri F, Ronchi D, Corti S, Cassandrini D, Mercuri E, Tasca G, Bertini E, Fattori F, Toscano A, Messina S, Moroni I, Mora M, Moggio M, Colombo I, Giugliano T, Pane M, Fiorillo C, D'Amico A, Bruno C, Nigro V, Bresolin N, Comi GP.

J Mol Neurosci. 2016 Jul;59(3):351-9. doi: 10.1007/s12031-016-0739-2. Epub 2016 Apr 22.

PMID:
27105866
20.

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.

Martinuzzi A, Montanaro D, Vavla M, Paparella G, Bonanni P, Musumeci O, Brighina E, Hlavata H, Rossi G, Aghakhanyan G, Martino N, Baratto A, D'Angelo MG, Peruch F, Fantin M, Arnoldi A, Citterio A, Vantaggiato C, Rizzo V, Toscano A, Bresolin N, Bassi MT.

PLoS One. 2016 Apr 14;11(4):e0153283. doi: 10.1371/journal.pone.0153283. eCollection 2016.

21.

Problems With Optimal Energy and Protein Delivery in the Pediatric Intensive Care Unit.

Moreno YM, Hauschild DB, Barbosa E, Bresolin NL, Mehta NM.

Nutr Clin Pract. 2016 Oct;31(5):673-80. doi: 10.1177/0884533616639125. Epub 2016 Apr 13.

PMID:
27075179
22.

Pediatric urolithiasis: experience at a tertiary care pediatric hospital.

Amancio L, Fedrizzi M, Bresolin NL, Penido MG.

J Bras Nefrol. 2016 Mar;38(1):90-8. doi: 10.5935/0101-2800.20160014. English, Portuguese.

23.

The evolutionary history of genes involved in spoken and written language: beyond FOXP2.

Mozzi A, Forni D, Clerici M, Pozzoli U, Mascheretti S, Guerini FR, Riva S, Bresolin N, Cagliani R, Sironi M.

Sci Rep. 2016 Feb 25;6:22157. doi: 10.1038/srep22157.

24.

Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype.

Nizzardo M, Simone C, Rizzo F, Ulzi G, Ramirez A, Rizzuti M, Bordoni A, Bucchia M, Gatti S, Bresolin N, Comi GP, Corti S.

Sci Rep. 2016 Feb 16;6:21301. doi: 10.1038/srep21301.

25.

Abnormal brain temperature in early-onset Parkinson's disease.

Rango M, Piatti M, Di Fonzo A, Ardolino G, Airaghi L, Biondetti P, Bresolin N.

Mov Disord. 2016 Mar;31(3):425-6. doi: 10.1002/mds.26548. Epub 2016 Feb 13. No abstract available.

PMID:
26873586
26.

The mammalian complement system as an epitome of host-pathogen genetic conflicts.

Cagliani R, Forni D, Filippi G, Mozzi A, De Gioia L, Pontremoli C, Pozzoli U, Bresolin N, Clerici M, Sironi M.

Mol Ecol. 2016 Mar;25(6):1324-39. doi: 10.1111/mec.13558.

PMID:
26836579
27.

Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model.

Nizzardo M, Simone C, Rizzo F, Salani S, Dametti S, Rinchetti P, Del Bo R, Foust K, Kaspar BK, Bresolin N, Comi GP, Corti S.

Sci Adv. 2015 Mar 13;1(2):e1500078. doi: 10.1126/sciadv.1500078. eCollection 2015 Mar.

28.

Usefulness of Multi-Parametric MRI for the Investigation of Posterior Cortical Atrophy.

Arighi A, Rango M, Bozzali M, Pietroboni AM, Fumagalli G, Ghezzi L, Fenoglio C, Biondetti PR, Bresolin N, Galimberti D, Scarpini E.

PLoS One. 2015 Oct 19;10(10):e0140639. doi: 10.1371/journal.pone.0140639. eCollection 2015.

29.

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

Citterio A, Arnoldi A, Panzeri E, Merlini L, D'Angelo MG, Musumeci O, Toscano A, Bondi A, Martinuzzi A, Bresolin N, Bassi MT.

J Neurol. 2015 Dec;262(12):2684-90. doi: 10.1007/s00415-015-7899-9. Epub 2015 Sep 26.

30.

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

Magri F, Colombo I, Del Bo R, Previtali S, Brusa R, Ciscato P, Scarlato M, Ronchi D, D'Angelo MG, Corti S, Moggio M, Bresolin N, Comi GP.

BMC Neurol. 2015 Sep 24;15:172. doi: 10.1186/s12883-015-0428-8.

31.

Natural Selection at the Brush-Border: Adaptations to Carbohydrate Diets in Humans and Other Mammals.

Pontremoli C, Mozzi A, Forni D, Cagliani R, Pozzoli U, Menozzi G, Vertemara J, Bresolin N, Clerici M, Sironi M.

Genome Biol Evol. 2015 Aug 28;7(9):2569-84. doi: 10.1093/gbe/evv166.

32.

MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.

Stuppia G, Rizzo F, Riboldi G, Del Bo R, Nizzardo M, Simone C, Comi GP, Bresolin N, Corti S.

J Neurol Sci. 2015 Sep 15;356(1-2):7-18. doi: 10.1016/j.jns.2015.05.033. Epub 2015 May 29. Review.

PMID:
26143526
33.

Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches.

Nizzardo M, Simone C, Dametti S, Salani S, Ulzi G, Pagliarani S, Rizzo F, Frattini E, Pagani F, Bresolin N, Comi G, Corti S.

Sci Rep. 2015 Jun 30;5:11746. doi: 10.1038/srep11746.

34.

Post-Activation Brain Warming: A 1-H MRS Thermometry Study.

Rango M, Bonifati C, Bresolin N.

PLoS One. 2015 May 26;10(5):e0127314. doi: 10.1371/journal.pone.0127314. eCollection 2015.

35.

Diverse selective regimes shape genetic diversity at ADAR genes and at their coding targets.

Forni D, Mozzi A, Pontremoli C, Vertemara J, Pozzoli U, Biasin M, Bresolin N, Clerici M, Cagliani R, Sironi M.

RNA Biol. 2015;12(2):149-61. doi: 10.1080/15476286.2015.1017215.

36.

OASes and STING: adaptive evolution in concert.

Mozzi A, Pontremoli C, Forni D, Clerici M, Pozzoli U, Bresolin N, Cagliani R, Sironi M.

Genome Biol Evol. 2015 Mar 9;7(4):1016-32. doi: 10.1093/gbe/evv046.

37.

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

Malaguti MC, Melzi V, Di Giacopo R, Monfrini E, Di Biase E, Franco G, Borellini L, Trezzi I, Monzio Compagnoni G, Fortis P, Feraco P, Orrico D, Cucurachi L, Donner D, Rizzuti M, Ronchi D, Bonato S, Bresolin N, Corti S, Comi GP, Di Fonzo A.

Parkinsonism Relat Disord. 2015 Mar;21(3):337-9. doi: 10.1016/j.parkreldis.2015.01.001. Epub 2015 Jan 10. No abstract available.

PMID:
25601130
38.

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

Ronchi D, Riboldi G, Del Bo R, Ticozzi N, Scarlato M, Galimberti D, Corti S, Silani V, Bresolin N, Comi GP.

Brain. 2015 Aug;138(Pt 8):e372. doi: 10.1093/brain/awu384. Epub 2015 Jan 8. No abstract available.

PMID:
25576308
39.

Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype.

Ronchi D, Previtali SC, Sora MG, Barera G, Del Menico B, Corti S, Bresolin N, Comi GP.

J Mol Neurosci. 2015 May;56(1):212-5. doi: 10.1007/s12031-014-0483-4. Epub 2015 Jan 9.

PMID:
25572663
40.

Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders.

Forni D, Pozzoli U, Cagliani R, Tresoldi C, Menozzi G, Riva S, Guerini FR, Comi GP, Bolognesi E, Bresolin N, Clerici M, Sironi M.

Genome Biol. 2014;15(10):499.

41.

Albuminoid genes: evolving at the interface of dispensability and selection.

Mozzi A, Forni D, Cagliani R, Pozzoli U, Vertemara J, Bresolin N, Sironi M.

Genome Biol Evol. 2014 Oct 27;6(11):2983-97. doi: 10.1093/gbe/evu235.

42.

iPSC-Derived neural stem cells act via kinase inhibition to exert neuroprotective effects in spinal muscular atrophy with respiratory distress type 1.

Simone C, Nizzardo M, Rizzo F, Ruggieri M, Riboldi G, Salani S, Bucchia M, Bresolin N, Comi GP, Corti S.

Stem Cell Reports. 2014 Aug 12;3(2):297-311. doi: 10.1016/j.stemcr.2014.06.004. Epub 2014 Jul 4.

43.

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation.

Di Bella D, Pareyson D, Savoiardo M, Farina L, Ciano C, Caldarazzo S, Sagnelli A, Bonato S, Nava S, Bresolin N, Tedeschi G, Taroni F, Salsano E.

Neurology. 2014 Sep 23;83(13):1217-8. doi: 10.1212/WNL.0000000000000812. Epub 2014 Aug 15. No abstract available.

44.

Glycogen storage disease type III: A novel Agl knockout mouse model.

Pagliarani S, Lucchiari S, Ulzi G, Violano R, Ripolone M, Bordoni A, Nizzardo M, Gatti S, Corti S, Moggio M, Bresolin N, Comi GP.

Biochim Biophys Acta. 2014 Nov;1842(11):2318-28. doi: 10.1016/j.bbadis.2014.07.029. Epub 2014 Aug 1.

45.

A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations.

Lanfranconi S, Ronchi D, Ahmed N, Civelli V, Basilico P, Bresolin N, Comi GP, Corti S.

BMC Neurol. 2014 Aug 3;14:158. doi: 10.1186/s12883-014-0158-3.

46.

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.

Liguori R, Giannoccaro MP, Arnoldi A, Citterio A, Tonon C, Lodi R, Bresolin N, Bassi MT.

J Neurol. 2014 Sep;261(9):1789-93. doi: 10.1007/s00415-014-7418-4. Epub 2014 Jul 3.

47.

Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases.

Riboldi G, Zanetta C, Ranieri M, Nizzardo M, Simone C, Magri F, Bresolin N, Comi GP, Corti S.

Mol Neurobiol. 2014 Dec;50(3):721-32. doi: 10.1007/s12035-014-8724-7. Epub 2014 May 9. Review.

PMID:
24809691
48.

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.

Di Fonzo A, Ronchi D, Gallia F, Cribi├╣ FM, Trezzi I, Vetro A, Della Mina E, Limongelli I, Bellazzi R, Ricca I, Micieli G, Fassone E, Rizzuti M, Bordoni A, Fortunato F, Salani S, Mora G, Corti S, Ceroni M, Bosari S, Zuffardi O, Bresolin N, Nobile-Orazio E, Comi GP.

Neurology. 2014 Jun 3;82(22):1990-8. doi: 10.1212/WNL.0000000000000476. Epub 2014 May 7.

PMID:
24808015
49.

No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis.

Guerini FR, Clerici M, Cagliani R, Malhotra S, Montalban X, Forni D, Agliardi C, Riva S, Caputo D, Galimberti D, Asselta R, Fenoglio C, Scarpini E, Comi GP, Bresolin N, Comabella M, Sironi M.

J Neuroimmunol. 2014 Jun 15;271(1-2):49-52. doi: 10.1016/j.jneuroim.2014.04.006. Epub 2014 Apr 16.

PMID:
24794504
50.

Stem cell transplantation for amyotrophic lateral sclerosis: therapeutic potential and perspectives on clinical translation.

Faravelli I, Riboldi G, Nizzardo M, Simone C, Zanetta C, Bresolin N, Comi GP, Corti S.

Cell Mol Life Sci. 2014 Sep;71(17):3257-68. doi: 10.1007/s00018-014-1613-4. Epub 2014 Apr 4. Review.

PMID:
24699704

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