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List of works by Stefano C. Previtali

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Longitudinal MRI quantification of muscle degeneration in Duchenne muscular dystrophy.

scientific article published on 16 June 2016
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

scientific article
Muscle MRI findings in facioscapulohumeral muscular dystrophy

scientific article published on 27 June 2015
Intravenous immunoglobulin treatment in patients with chronic inflammatory demyelinating neuropathy not responsive to other treatments

scientific article
Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A.

scientific article
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.

scientific article published in December 2015
Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold

scientific article (publication date: April 2016)
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study

scientific article
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

scientific article published on 2 June 2017
Foot pad skin biopsy in mouse models of hereditary neuropathy

scientific article published on December 2010
Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers

scientific article published in 2012
Urokinase plasminogen receptor and the fibrinolytic complex play a role in nerve repair after nerve crush in mice, and in human neuropathies

scientific article
The empowerment of translational research: lessons from laminopathies.

scientific article
Brain connectivity abnormalities extend beyond the sensorimotor network in peripheral neuropathy.

scientific article published on 25 October 2012
Autoimmunity in the peripheral nervous system

scientific article published on January 2003
Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype

scientific article published on 9 January 2015
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

scientific article published on 14 February 2017
Intra-arterial transplantation of HLA-matched donor mesoangioblasts in Duchenne muscular dystrophy.

scientific article
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

scientific article published on 27 May 2019
Diffuse intraneural leiomyoma in a case of sensorimotor neuropathy

scientific article published on 17 March 2009
Laminin receptor alpha6beta4 integrin is highly expressed in ENU-induced glioma in rat.

scientific article
A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation

scientific article published on 16 December 2014
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

scientific article published on 24 September 2015
LYMPHOMATOUS NEUROPATHY IN COLD AGGLUTININ DISEASE

scientific article published on 01 May 2008
Autoantibodies to Amphiphysin I and Amphiphysin II in a Patient with Sensory-Motor Neuropathy

scientific article published on 01 January 2002
Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).

scientific article published on 29 May 2013
Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy

scientific article published on 11 November 2013
JAB1 deletion in oligodendrocytes causes senescence-induced inflammation and neurodegeneration in mice

Disease Progression in Charcot‐Marie‐Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin‐Related Proteins 2 and 13

scientific article published in February 2025
Overcoming therapeutic challenges: Successful management of a supposedly triple seronegative, refractory generalized myasthenia gravis patient with efgartigimod

scientific article published on 8 May 2024
Genetic modifiers of respiratory function in Duchenne muscular dystrophy

scientific article published on 28 April 2020
Expanding the spectrum of genes responsible for hereditary motor neuropathies

scientific article published on 05 June 2019
Hypokalemic periodic paralysis in a patient with acquired growth hormone deficiency

scientific article published in April 2007
Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

scientific article published on 4 December 2015
O-4The Italian Network for Laminopathies

scientific article published in October 2011
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

scientific article published on 11 September 2020
Expanding the central nervous system disease spectrum associated with FLNC mutation

scientific article published on 20 February 2019
Peripheral Nerve Dysmyelination Due to P0 Glycoprotein Overexpression Is Dose‐Dependent

scientific article published on October 1, 1999

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