Publications by authors named "Stefania Corti"

100Publications

Spinal muscular atrophy - challenges in the therapeutic era.

Nat Rev Neurol 2020 Sep 11. Epub 2020 Sep 11.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.

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http://dx.doi.org/10.1038/s41582-020-00411-6DOI Listing
September 2020

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.

Acta Myol 2020 Jun 1;39(2):57-66. Epub 2020 Jun 1.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Neuroscience Section, University of Milan, Italy.

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http://dx.doi.org/10.36185/2532-1900-008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460733PMC
June 2020

Animal Models of CMT2A: State-of-art and Therapeutic Implications.

Mol Neurobiol 2020 Aug 27. Epub 2020 Aug 27.

Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-020-02081-3DOI Listing
August 2020

Management of patients with neuromuscular disorders at the time of the SARS-CoV-2 pandemic.

J Neurol 2020 Aug 17. Epub 2020 Aug 17.

Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s00415-020-10149-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7429942PMC
August 2020

Extracellular vesicles and amyotrophic lateral sclerosis: from misfolded protein vehicles to promising clinical biomarkers.

Cell Mol Life Sci 2020 Aug 16. Epub 2020 Aug 16.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s00018-020-03619-3DOI Listing
August 2020

Safety and efficacy of rt-PA treatment for acute stroke in pseudoxanthoma elasticum: the first report.

J Thromb Thrombolysis 2020 May 26. Epub 2020 May 26.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1007/s11239-020-02150-3DOI Listing
May 2020

The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer's Disease and Parkinson's Disease.

Mol Neurobiol 2020 Jul 22;57(7):2959-2980. Epub 2020 May 22.

Division of Neuroscience and Laboratory of Neurogenetics, National Institute on Aging, National Institute of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/s12035-020-01926-1DOI Listing
July 2020

Neural Stem Cell Transplantation for Neurodegenerative Diseases.

Int J Mol Sci 2020 Apr 28;21(9). Epub 2020 Apr 28.

Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Via Francesco Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.3390/ijms21093103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247151PMC
April 2020

Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives.

Cell Mol Life Sci 2020 Apr 29. Epub 2020 Apr 29.

Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1007/s00018-020-03537-4DOI Listing
April 2020

Glial cells involvement in spinal muscular atrophy: Could SMA be a neuroinflammatory disease?

Neurobiol Dis 2020 07 12;140:104870. Epub 2020 Apr 12.

Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, Milan, Italy.; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.

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http://dx.doi.org/10.1016/j.nbd.2020.104870DOI Listing
July 2020

SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.

Parkinsonism Relat Disord 2020 05 2;74:1-5. Epub 2020 Apr 2.

IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.03.018DOI Listing
May 2020

Silence superoxide dismutase 1 (SOD1): a promising therapeutic target for amyotrophic lateral sclerosis (ALS).

Expert Opin Ther Targets 2020 Apr 14;24(4):295-310. Epub 2020 Mar 14.

Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1080/14728222.2020.1738390DOI Listing
April 2020

Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Cell Mol Life Sci 2020 Sep 2;77(17):3351-3367. Epub 2020 Mar 2.

Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s00018-020-03492-0DOI Listing
September 2020

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

Transpl Infect Dis 2020 Feb 1;22(1):e13236. Epub 2020 Jan 1.

Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/tid.13236DOI Listing
February 2020

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

J Cell Mol Med 2020 Jan 4;24(2):1169-1178. Epub 2019 Dec 4.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/jcmm.14874DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6991628PMC
January 2020

iPSCs-Based Neural 3D Systems: A Multidimensional Approach for Disease Modeling and Drug Discovery.

Cells 2019 11 14;8(11). Epub 2019 Nov 14.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

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http://dx.doi.org/10.3390/cells8111438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912470PMC
November 2019

Molecular Approaches for the Treatment of Pompe Disease.

Mol Neurobiol 2020 Feb 12;57(2):1259-1280. Epub 2019 Nov 12.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-019-01820-5DOI Listing
February 2020

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

Front Neurol 2019 13;10:823. Epub 2019 Aug 13.

Neurology Unit, Department of Pathophysiology and Transplantation, Dino Ferrari Center, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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https://www.frontiersin.org/article/10.3389/fneur.2019.00823
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http://dx.doi.org/10.3389/fneur.2019.00823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6700242PMC
August 2019

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

Int J Mol Sci 2019 Aug 25;20(17). Epub 2019 Aug 25.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.

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http://dx.doi.org/10.3390/ijms20174152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747516PMC
August 2019

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.

Exp Neurol 2019 11 21;321:113041. Epub 2019 Aug 21.

Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2019.113041DOI Listing
November 2019

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

Ther Adv Neurol Disord 2019 3;12:1756286419833478. Epub 2019 May 3.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1177/1756286419833478DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501480PMC
May 2019

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

Mol Neurobiol 2019 Oct 26;56(10):6703-6715. Epub 2019 Mar 26.

Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, Milan, Italy.

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http://link.springer.com/10.1007/s12035-019-1554-x
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http://dx.doi.org/10.1007/s12035-019-1554-xDOI Listing
October 2019

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

Parkinsonism Relat Disord 2019 06 1;63:66-72. Epub 2019 Mar 1.

Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020193009
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http://dx.doi.org/10.1016/j.parkreldis.2019.02.045DOI Listing
June 2019

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

Mol Neurobiol 2019 Sep 4;56(9):6460-6471. Epub 2019 Mar 4.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-019-1533-2DOI Listing
September 2019

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

J Cell Mol Med 2019 03 4;23(3):1647-1656. Epub 2019 Jan 4.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/jcmm.13976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378226PMC
March 2019

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

Front Neurol 2018 30;9:1031. Epub 2018 Nov 30.

Neurology Unit, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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https://www.frontiersin.org/article/10.3389/fneur.2018.01031
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http://dx.doi.org/10.3389/fneur.2018.01031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284006PMC
November 2018

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

Mol Neurobiol 2019 May 17;56(5):3356-3367. Epub 2018 Aug 17.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Neuroscience Section, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-018-1305-4DOI Listing
May 2019

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

Front Neurol 2018 2;9:619. Epub 2018 Aug 2.

Dino Ferrari Centre, Neuroscience Section, Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.3389/fneur.2018.00619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084507PMC
August 2018

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.

J Neurosci Res 2018 09;96(9):1576-1585

Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/jnr.24263DOI Listing
September 2018

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

Biochim Biophys Acta Mol Basis Dis 2018 10 1;1864(10):3407-3417. Epub 2018 Aug 1.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; University of Milan, Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Milan, Italy.

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http://dx.doi.org/10.1016/j.bbadis.2018.07.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134197PMC
October 2018

R-Loops in Motor Neuron Diseases.

Mol Neurobiol 2019 Apr 25;56(4):2579-2589. Epub 2018 Jul 25.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-018-1246-yDOI Listing
April 2019

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

Sci Rep 2018 07 4;8(1):10105. Epub 2018 Jul 4.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/s41598-018-28366-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031650PMC
July 2018

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

Neuromuscul Disord 2018 06 13;28(6):532-537. Epub 2018 Apr 13.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.04.006DOI Listing
June 2018

Pregnancy outcomes in women with spinal muscular atrophy: A review.

J Neurol Sci 2018 05 2;388:50-60. Epub 2018 Mar 2.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.03.001DOI Listing
May 2018

In vitro models of multiple system atrophy from primary cells to induced pluripotent stem cells.

J Cell Mol Med 2018 05 4;22(5):2536-2546. Epub 2018 Mar 4.

Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/jcmm.13563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908105PMC
May 2018

Advances in spinal muscular atrophy therapeutics.

Ther Adv Neurol Disord 2018 5;11:1756285618754501. Epub 2018 Feb 5.

Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1177/1756285618754501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5802612PMC
February 2018

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

Int J Mol Sci 2018 Jan 6;19(1). Epub 2018 Jan 6.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, via Francesco Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.3390/ijms19010167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796116PMC
January 2018

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

Parkinsonism Relat Disord 2018 03 27;48:109-111. Epub 2017 Dec 27.

IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020173086
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http://dx.doi.org/10.1016/j.parkreldis.2017.12.025DOI Listing
March 2018

Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy.

Mol Neurobiol 2018 Aug 2;55(8):6307-6318. Epub 2018 Jan 2.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://link.springer.com/10.1007/s12035-017-0831-9
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http://dx.doi.org/10.1007/s12035-017-0831-9DOI Listing
August 2018

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

Brain 2018 01;141(1):e4

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

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http://dx.doi.org/10.1093/brain/awx302DOI Listing
January 2018

miRNA in spinal muscular atrophy pathogenesis and therapy.

J Cell Mol Med 2018 02 21;22(2):755-767. Epub 2017 Nov 21.

Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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http://doi.wiley.com/10.1111/jcmm.13450
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http://dx.doi.org/10.1111/jcmm.13450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5783860PMC
February 2018

Body-scaled action in obesity during locomotion: Insights on the nature and extent of body representation disturbances.

J Psychosom Res 2017 11 4;102:34-40. Epub 2017 Sep 4.

Research Laboratory in Biomechanics and Rehabilitation, Orthopedic Rehabilitation Unit, IRCCS Istituto Auxologico Italiano, Ospedale San Giuseppe, Piancavallo (VCO), Italy.

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http://dx.doi.org/10.1016/j.jpsychores.2017.09.004DOI Listing
November 2017

MicroRNA-Directed Neuronal Reprogramming as a Therapeutic Strategy for Neurological Diseases.

Mol Neurobiol 2018 May 29;55(5):4428-4436. Epub 2017 Jun 29.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-017-0671-7DOI Listing
May 2018

ICF-OB: a multidisciplinary questionnaire based on the International Classification of Functioning, Disability and Health to address disability in obesity.

Eur J Phys Rehabil Med 2018 02 1;54(1):119-121. Epub 2017 Jun 1.

Neurology, Public Health and Disability Unit, C. Besta Neurological Institute for Research and Care, Milan, Italy.

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http://dx.doi.org/10.23736/S1973-9087.17.04836-5DOI Listing
February 2018

Therapeutic Strategies Under Development Targeting Inflammatory Mechanisms in Amyotrophic Lateral Sclerosis.

Mol Neurobiol 2018 Apr 28;55(4):2789-2813. Epub 2017 Apr 28.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-017-0532-4DOI Listing
April 2018

MicroRNA Metabolism and Dysregulation in Amyotrophic Lateral Sclerosis.

Mol Neurobiol 2018 03 18;55(3):2617-2630. Epub 2017 Apr 18.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-017-0537-zDOI Listing
March 2018

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

Sci Rep 2017 04 6;7:46271. Epub 2017 Apr 6.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/srep46271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382781PMC
April 2017

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

Parkinsonism Relat Disord 2017 06 9;39:87-88. Epub 2017 Mar 9.

IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, via Francesco Sforza 35, 20122, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.03.007DOI Listing
June 2017

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

Hum Mol Genet 2016 10 9;25(19):4266-4281. Epub 2016 Aug 9.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

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http://hmg.oxfordjournals.org/content/early/2016/08/08/hmg.d
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http://dx.doi.org/10.1093/hmg/ddw258DOI Listing
October 2016

Mutational analysis of COQ2 in patients with MSA in Italy.

Neurobiol Aging 2016 09 7;45:213.e1-213.e2. Epub 2016 Jun 7.

IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.05.022DOI Listing
September 2016

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

Mol Neurobiol 2017 08 28;54(6):4466-4476. Epub 2016 Jun 28.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-016-9993-0DOI Listing
August 2017

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.

Hum Mol Genet 2016 08 6;25(15):3152-3163. Epub 2016 Jun 6.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy, and

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http://dx.doi.org/10.1093/hmg/ddw163DOI Listing
August 2016

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Stroke 2016 07 31;47(7):1702-9. Epub 2016 May 31.

From the Department of Cerebrovascular Disease, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy (A.B., G.B.B., E.A.P., N.T.); Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (H.S.M.); Department of Bio-Medical Informatics, University of Pavia, Pavia, Italy (S.Q.); Department of Inherited Cardiovascular Disease, Foundation IRCCS Policlinico San Matteo, Pavia, Italy (E.A., M.G.); Neurology Unit, Department of Neuroscience and Sensory Organs, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy (S.L., L.C.); Neurology and Stroke Unit, Department of Urgency (G.M., A.C.), Department of Genetics (C.C., G.G.), and Brain MRI 3T Research Center (P.V.), IRCCS Foundation Casimiro Mondino Neurological Institute, Pavia, Italy; Department of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation C, Besta Neurological Institute, Milan, Italy (F.T., C.G., S.B.); Department of Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy (S.P., L.M.); Department of Genomics for Human Disease Diagnosis and Laboratory of Clinical Molecular Biology, IRCCS San Raffaele hospital, Milan, Italy (P.C., M.F.); University Vita-Salute, Milano, Italy (M.F.); Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy (S.C., D.R., G.P.C.); Neurology Unit, Department of Neuroscience and Sensory Organs, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan, Milan, Italy (S.C., D.R., G.P.C.); Department of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy (M.T.B.); Center for amyloidosis, Department of medical Thecnologies, IRCCS Foundation San Matteo Policlinico, Pavia, Italy (L.O., G.M.); Vascular Neurology - Spedali Civili, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy (A. Pezzini, A. Padovani); Stroke Unit, Departmen

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http://dx.doi.org/10.1161/STROKEAHA.115.012281DOI Listing
July 2016

Differential neuronal vulnerability identifies IGF-2 as a protective factor in ALS.

Sci Rep 2016 05 16;6:25960. Epub 2016 May 16.

Department of Neuroscience, Karolinska Institutet, Retzius v. 8, 171 77 Stockholm, Sweden.

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http://dx.doi.org/10.1038/srep25960DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867585PMC
May 2016

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

J Mol Neurosci 2016 Jul 22;59(3):351-9. Epub 2016 Apr 22.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, I.R.C.C.S. Foundation Ca' Granda, Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12031-016-0739-2DOI Listing
July 2016

Autophagy in motor neuron disease: Key pathogenetic mechanisms and therapeutic targets.

Mol Cell Neurosci 2016 Apr 2;72:84-90. Epub 2016 Feb 2.

Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Istituto Di Ricovero e Cura a Carattere Scientifico Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mcn.2016.01.012DOI Listing
April 2016

Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?

Cell Mol Life Sci 2016 Mar 18;73(5):1003-20. Epub 2015 Dec 18.

Neuroscience Section, Neurology Unit, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s00018-015-2106-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756905PMC
March 2016

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

Sci Adv 2015 Mar 13;1(2):e1500078. Epub 2015 Mar 13.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, and Neurology Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.

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http://dx.doi.org/10.1126/sciadv.1500078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643829PMC
March 2015

Patients with obesity-related comorbidities have higher disability compared with those without obesity-related comorbidities: results from a cross-sectional study.

Int J Rehabil Res 2016 Mar;39(1):63-9

aDepartment of Internal Medicine bPsycological Research Laboratory, Ospedale San Giuseppe IRCCS, Istituto Auxologico Italiano, Verbania cNeurology, Public Health and Disability Unit, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy.

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http://dx.doi.org/10.1097/MRR.0000000000000146DOI Listing
March 2016

Chronic care management of globesity: promoting healthier lifestyles in traditional and mHealth based settings.

Front Psychol 2015 15;6:1557. Epub 2015 Oct 15.

Psychology Research Laboratory, Istituto Auxologico Italiano, Istituti di Ricovero e Cura a Carattere Scientifico , Ospedale San Giuseppe, Verbania, Italy ; Department of Psychology, Catholic University of Milan , Milan, Italy.

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http://dx.doi.org/10.3389/fpsyg.2015.01557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4606044PMC
November 2015

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

BMC Neurol 2015 Sep 24;15:172. Epub 2015 Sep 24.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, via F. Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1186/s12883-015-0428-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582941PMC
September 2015

SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis.

Front Cell Neurosci 2015 25;9:336. Epub 2015 Aug 25.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan, Italy.

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http://dx.doi.org/10.3389/fncel.2015.00336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4548205PMC
September 2015

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

J Neurol Sci 2015 Sep 29;356(1-2):7-18. Epub 2015 May 29.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.05.033DOI Listing
September 2015

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

Sci Rep 2015 Jun 30;5:11746. Epub 2015 Jun 30.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/srep11746DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485234PMC
June 2015

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.

J Cell Mol Med 2015 Sep 20;19(9):2058-66. Epub 2015 Jun 20.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://doi.wiley.com/10.1111/jcmm.12606
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568910PMC
September 2015

An ICF-Based Model for Implementing and Standardizing Multidisciplinary Obesity Rehabilitation Programs within the Healthcare System.

Int J Environ Res Public Health 2015 May 29;12(6):6084-91. Epub 2015 May 29.

Department of Rehabilitation Medicine, San Giuseppe Hospital, IRCCS Istituto Auxologico Italiano, Piancavallo, 28921 Verbania, Italy.

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http://dx.doi.org/10.3390/ijerph120606084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4483688PMC
May 2015

Spinal muscular atrophy--recent therapeutic advances for an old challenge.

Nat Rev Neurol 2015 Jun 19;11(6):351-9. Epub 2015 May 19.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, Neurology Unit, IRCCS Foundation Ca'Granda Ospedale Maggiore Policlinico, University of Milan, via Francesco Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1038/nrneurol.2015.77DOI Listing
June 2015

Experimental Advances Towards Neural Regeneration from Induced Stem Cells to Direct In Vivo Reprogramming.

Mol Neurobiol 2016 May 2;53(4):2124-31. Epub 2015 May 2.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-015-9181-7DOI Listing
May 2016

Human pluripotent stem cells as tools for neurodegenerative and neurodevelopmental disease modeling and drug discovery.

Expert Opin Drug Discov 2015 Jun 20;10(6):615-29. Epub 2015 Apr 20.

University of Milan, Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, Neurology Unit, IRCCS Foundation Ca'Granda Ospedale Maggiore Policlinico , via Francesco Sforza 35, Milan 20122 , Italy +39 02 55033817 ;

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http://dx.doi.org/10.1517/17460441.2015.1037737DOI Listing
June 2015

Therapeutic development in amyotrophic lateral sclerosis.

Clin Ther 2015 Mar 7;37(3):668-80. Epub 2015 Feb 7.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda Maggiore Hospital Policlinico, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clinthera.2014.12.020DOI Listing
March 2015

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

Brain 2015 Aug 8;138(Pt 8):e372. Epub 2015 Jan 8.

1 Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy

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http://brain.oxfordjournals.org/content/brain/early/2015/01/
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August 2015

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

J Mol Neurosci 2015 May 9;56(1):212-5. Epub 2015 Jan 9.

Neurology Unit, Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12031-014-0483-4DOI Listing
May 2015

Pluripotent stem cell-based models of spinal muscular atrophy.

Mol Cell Neurosci 2015 Jan 12;64:44-50. Epub 2014 Dec 12.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mcn.2014.12.005DOI Listing
January 2015

Therapeutic applications of the cell-penetrating HIV-1 Tat peptide.

Drug Discov Today 2015 Jan 30;20(1):76-85. Epub 2014 Sep 30.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, via Francesco Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1016/j.drudis.2014.09.017DOI Listing
January 2015

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

Stem Cell Reports 2014 Aug 4;3(2):297-311. Epub 2014 Jul 4.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2014.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176534PMC
August 2014

The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.

J Neurol Sci 2014 Nov 16;346(1-2):35-42. Epub 2014 Sep 16.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy. Electronic address:

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November 2014

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

Biochim Biophys Acta 2014 Nov 1;1842(11):2318-28. Epub 2014 Aug 1.

Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2014.07.029DOI Listing
November 2014

Obesity and outpatient rehabilitation using mobile technologies: the potential mHealth approach.

Front Psychol 2014 10;5:559. Epub 2014 Jun 10.

School of Psychology, Social Work and Social Policy, University of South Australia Adelaide, SA, Australia.

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http://dx.doi.org/10.3389/fpsyg.2014.00559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051130PMC
June 2014