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Herpes Simplex virus type 2 myeloradiculitis with a pure motor presentation in a liver transplant recipient.

Abati E, Gagliardi D, Velardo D, Meneri M, Conte G, Cinnante C, Bresolin N, Comi G, Corti S.

Transpl Infect Dis. 2019 Dec 23:e13236. doi: 10.1111/tid.13236. [Epub ahead of print]


Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.

Saladini M, Nizzardo M, Govoni A, Taiana M, Bresolin N, Comi GP, Corti S.

J Cell Mol Med. 2019 Dec 4. doi: 10.1111/jcmm.14874. [Epub ahead of print] Review.


Molecular Approaches for the Treatment of Pompe Disease.

Bellotti AS, Andreoli L, Ronchi D, Bresolin N, Comi GP, Corti S.

Mol Neurobiol. 2019 Nov 12. doi: 10.1007/s12035-019-01820-5. [Epub ahead of print] Review.


Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.

Bitetto G, Ronchi D, Bonato S, Pittaro A, Compagnoni GM, Bordoni A, Salani S, Frattini E, Lopez G, Cribiù FM, Corti S, Comi GP, Bresolin N, Di Fonzo A.

Hum Mol Genet. 2019 Dec 1;28(23):3921-3927. doi: 10.1093/hmg/ddz236.


Undernutrition at PICU Admission Is Predictor of 60-Day Mortality and PICU Length of Stay in Critically Ill Children.

Ventura JC, Hauschild DB, Barbosa E, Bresolin NL, Kawai K, Mehta NM, Moreno YMF.

J Acad Nutr Diet. 2019 Sep 12. pii: S2212-2672(19)30839-1. doi: 10.1016/j.jand.2019.06.250. [Epub ahead of print]


Ophthalmoplegia Due to Miller Fisher Syndrome in a Patient With Myasthenia Gravis.

Brusa R, Faravelli I, Gagliardi D, Magri F, Cogiamanian F, Saccomanno D, Cinnante C, Mauri E, Abati E, Bresolin N, Corti S, Comi GP.

Front Neurol. 2019 Aug 13;10:823. doi: 10.3389/fneur.2019.00823. eCollection 2019.


Diagnostic and Prognostic Role of Blood and Cerebrospinal Fluid and Blood Neurofilaments in Amyotrophic Lateral Sclerosis: A Review of the Literature.

Gagliardi D, Meneri M, Saccomanno D, Bresolin N, Comi GP, Corti S.

Int J Mol Sci. 2019 Aug 25;20(17). pii: E4152. doi: 10.3390/ijms20174152. Review.


CSF transplantation of a specific iPSC-derived neural stem cell subpopulation ameliorates the disease phenotype in a mouse model of spinal muscular atrophy with respiratory distress type 1.

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

Exp Neurol. 2019 Nov;321:113041. doi: 10.1016/j.expneurol.2019.113041. Epub 2019 Aug 21.


Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies.

Piga D, Salani S, Magri F, Brusa R, Mauri E, Comi GP, Bresolin N, Corti S.

Ther Adv Neurol Disord. 2019 May 3;12:1756286419833478. doi: 10.1177/1756286419833478. eCollection 2019. Review.


Advances, Challenges, and Perspectives in Translational Stem Cell Therapy for Amyotrophic Lateral Sclerosis.

Abati E, Bresolin N, Comi G, Corti S.

Mol Neurobiol. 2019 Oct;56(10):6703-6715. doi: 10.1007/s12035-019-1554-x. Epub 2019 Mar 26. Review.


Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.

Monfrini E, Straniero L, Bonato S, Monzio Compagnoni G, Bordoni A, Dilena R, Rinchetti P, Silipigni R, Ronchi D, Corti S, Comi GP, Bresolin N, Duga S, Di Fonzo A.

Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1.


Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.

Barbullushi K, Abati E, Rizzo F, Bresolin N, Comi GP, Corti S.

Mol Neurobiol. 2019 Sep;56(9):6460-6471. doi: 10.1007/s12035-019-1533-2. Epub 2019 Mar 4. Review.


Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature.

Gagliardi D, Mauri E, Magri F, Velardo D, Meneri M, Abati E, Brusa R, Faravelli I, Piga D, Ronchi D, Triulzi F, Peverelli L, Sciacco M, Bresolin N, Comi GP, Corti S, Govoni A.

Front Neurol. 2019 Jan 31;10:38. doi: 10.3389/fneur.2019.00038. eCollection 2019.


Association between dietary pattern and metabolic disorders in children and adolescents with urolithiasis.

Vieira MS, Francisco PC, Hallal ALLC, Penido MGMG, Bresolin NL.

J Pediatr (Rio J). 2019 Feb 5. pii: S0021-7557(18)30964-1. doi: 10.1016/j.jped.2018.11.008. [Epub ahead of print]


Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons.

Rizzo F, Nizzardo M, Vashisht S, Molteni E, Melzi V, Taiana M, Salani S, Santonicola P, Di Schiavi E, Bucchia M, Bordoni A, Faravelli I, Bresolin N, Comi GP, Pozzoli U, Corti S.

Brain. 2019 Feb 1;142(2):276-294. doi: 10.1093/brain/awy330. Erratum in: Brain. 2019 May 1;142(5):e20.


MicroRNAs as regulators of cell death mechanisms in amyotrophic lateral sclerosis.

Gagliardi D, Comi GP, Bresolin N, Corti S.

J Cell Mol Med. 2019 Mar;23(3):1647-1656. doi: 10.1111/jcmm.13976. Epub 2019 Jan 4. Review.


"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.

Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, Masdeu JC.

AJNR Am J Neuroradiol. 2019 Jan;40(1):199-203. doi: 10.3174/ajnr.A5935. Epub 2019 Jan 3.


Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye.

Mauri E, Dilena R, Boccazzi A, Ronchi D, Piga D, Triulzi F, Gagliardi D, Brusa R, Faravelli I, Bresolin N, Magri F, Corti S, Comi GP.

BMC Neurol. 2018 Dec 27;18(1):220. doi: 10.1186/s12883-018-1227-9.


Central Nervous System Involvement in Common Variable Immunodeficiency: A Case of Acute Unilateral Optic Neuritis in a 26-Year-Old Italian Patient.

Abati E, Faravelli I, Magri F, Govoni A, Velardo D, Gagliardi D, Mauri E, Brusa R, Bresolin N, Fabio G, Comi GP, Carrabba M, Corti S.

Front Neurol. 2018 Nov 30;9:1031. doi: 10.3389/fneur.2018.01031. eCollection 2018.


Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature.

Borsani O, Piga D, Costa S, Govoni A, Magri F, Artoni A, Cinnante CM, Fagiolari G, Ciscato P, Moggio M, Bresolin N, Comi GP, Corti S.

Front Neurol. 2018 Oct 15;9:859. doi: 10.3389/fneur.2018.00859. eCollection 2018.


Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy.

Monzio Compagnoni G, Kleiner G, Samarani M, Aureli M, Faustini G, Bellucci A, Ronchi D, Bordoni A, Garbellini M, Salani S, Fortunato F, Frattini E, Abati E, Bergamini C, Fato R, Tabano S, Miozzo M, Serratto G, Passafaro M, Deleidi M, Silipigni R, Nizzardo M, Bresolin N, Comi GP, Corti S, Quinzii CM, Di Fonzo A.

Stem Cell Reports. 2018 Nov 13;11(5):1185-1198. doi: 10.1016/j.stemcr.2018.09.007. Epub 2018 Oct 18.


Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy.

Monzio Compagnoni G, Kleiner G, Bordoni A, Fortunato F, Ronchi D, Salani S, Guida M, Corti C, Pichler I, Bergamini C, Fato R, Pellecchia MT, Vallelunga A, Del Sorbo F, Elia A, Reale C, Garavaglia B, Mora G, Albanese A, Cogiamanian F, Ardolino G, Bresolin N, Corti S, Comi GP, Quinzii CM, Di Fonzo A.

Biochim Biophys Acta Mol Basis Dis. 2018 Dec;1864(12):3588-3597. doi: 10.1016/j.bbadis.2018.09.018. Epub 2018 Sep 19.


Preconditioning and Cellular Engineering to Increase the Survival of Transplanted Neural Stem Cells for Motor Neuron Disease Therapy.

Abati E, Bresolin N, Comi GP, Corti S.

Mol Neurobiol. 2019 May;56(5):3356-3367. doi: 10.1007/s12035-018-1305-4. Epub 2018 Aug 17. Review.


Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature.

Gagliardi D, Faravelli I, Villa L, Pero G, Cinnante C, Brusa R, Mauri E, Tresoldi L, Magri F, Govoni A, Bresolin N, Comi GP, Corti S.

Front Neurol. 2018 Aug 2;9:619. doi: 10.3389/fneur.2018.00619. eCollection 2018.


Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice.

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

Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3407-3417. doi: 10.1016/j.bbadis.2018.07.031. Epub 2018 Aug 1.


R-Loops in Motor Neuron Diseases.

Perego MGL, Taiana M, Bresolin N, Comi GP, Corti S.

Mol Neurobiol. 2019 Apr;56(4):2579-2589. doi: 10.1007/s12035-018-1246-y. Epub 2018 Jul 25. Review.


Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B.

Arrigoni F, De Luca A, Velardo D, Magri F, Gandossini S, Russo A, Froeling M, Bertoldo A, Leemans A, Bresolin N, D'angelo G.

Muscle Nerve. 2018 Oct;58(4):550-558. doi: 10.1002/mus.26189. Epub 2018 Aug 22.


MicroRNA expression analysis identifies a subset of downregulated miRNAs in ALS motor neuron progenitors.

Rizzuti M, Filosa G, Melzi V, Calandriello L, Dioni L, Bollati V, Bresolin N, Comi GP, Barabino S, Nizzardo M, Corti S.

Sci Rep. 2018 Jul 4;8(1):10105. doi: 10.1038/s41598-018-28366-1.


Enteral Protein Supplementation in Critically Ill Children: A Randomized Controlled Pilot and Feasibility Study.

Hauschild DB, Oliveira LDA, Farias MS, Barbosa E, Bresolin NL, Mehta NM, Moreno YMF.

JPEN J Parenter Enteral Nutr. 2019 Feb;43(2):281-289. doi: 10.1002/jpen.1416. Epub 2018 Jun 30.


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 Jun;28(6):532-537. doi: 10.1016/j.nmd.2018.04.006. Epub 2018 Apr 13. Review.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


iPSC-derived LewisX+CXCR4+β1-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.


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.


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.


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.


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