Publications by authors named "Patrizia Ciscato"

22Publications

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.

Mol Genet Genomic Med 2020 09 24;8(9):e1320. Epub 2020 Jun 24.

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/mgg3.1320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507101PMC
September 2020

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

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

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Neurology 2014 Jun 14;82(23):2072-6. Epub 2014 May 14.

From the IRCCS National Institute of Neurology C. Mondino Foundation (A.C., G.P., C.A.G., E.M., C.C., G. Grieco, I.R., A.M.), Pavia, Italy; Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases (A.T., A.P., J.H.), and Department of Neurodegenerative Disease (P.F.), UCL Institute of Neurology, London, UK; Neuromuscular Unit (P.C., L.N., V.L., M.R., R.V., G.F., M.M.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Dino Ferrari Centre, Università di Milano, Italy; Neurology Unit (G. Grampa), Saronno Hospital, Italy; MRC Laboratory for Molecular Cell Biology (S.E.M.), Department of Genetics, Evolution and Environment, and UCL Institute of Child Health, University College London, UK; and Department of Neurological Sciences (A.M.), University of Pavia, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118497PMC
June 2014

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.

Eur J Hum Genet 2012 Mar 21;20(3):357-60. Epub 2011 Dec 21.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/ejhg.2011.238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283170PMC
March 2012

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.

J Neurol 2011 Sep 12;258(9):1610-23. Epub 2011 Mar 12.

Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, I.R.C.C.S. Foundation Ca' Granda, Ospedale Maggiore Policlinico, Padiglione Ponti, Via Francesco Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1007/s00415-011-5979-zDOI Listing
September 2011

The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment.

J Neurol Sci 2010 May 18;292(1-2):107-10. Epub 2010 Feb 18.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S0022510X1000056
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http://dx.doi.org/10.1016/j.jns.2010.01.026DOI Listing
May 2010

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.

J Neurol Sci 2006 Apr 4;243(1-2):47-51. Epub 2006 Jan 4.

Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Unita' Operativa Neurologia, Fondazione I.R.C.C.S. Ospedale Maggiore Policlinico- Mangiagalli e Regina Elena, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1016/j.jns.2005.11.024DOI Listing
April 2006

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.

Nature 2006 Feb 11;439(7079):973-7. Epub 2005 Dec 11.

Howard Hughes Medical Institute, Programs in Gene Function and Expression and Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA.

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http://dx.doi.org/10.1038/nature04422DOI Listing
February 2006

Decorin and biglycan expression is differentially altered in several muscular dystrophies.

Brain 2005 Nov 23;128(Pt 11):2546-55. Epub 2005 Sep 23.

Division of Neuromuscular Diseases and Neuroimmunology, Istituto Nazionale Neurologico "C. Besta", Milano, Italy.

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http://dx.doi.org/10.1093/brain/awh635DOI Listing
November 2005

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.

J Neurol Sci 2005 Dec 15;239(1):21-4. Epub 2005 Sep 15.

Fondazione IRCCS Ospedale Maggiore-Policlinico Mangiagalli e Regina Elena, Dipartimento di Neuroscienze, Centro Dino Ferrari, Via Francesco Sforza, 35-20122 Milano, Italy.

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http://dx.doi.org/10.1016/j.jns.2005.07.008DOI Listing
December 2005