Publications by authors named "Denise Cassandrini"

49Publications

Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study.

J Pers Med 2020 Oct 9;10(4). Epub 2020 Oct 9.

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, Calambrone, 56128 Pisa, Italy.

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http://dx.doi.org/10.3390/jpm10040160DOI Listing
October 2020

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

Mol Genet Genomic Med 2020 Sep 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

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Neurol Genet 2019 Oct 16;5(5):e352. Epub 2019 Aug 16.

IRCCS Fondazione Stella Maris (A.R., G.A., J.B., G.B., S.L., F.M.S., D.C.), Pisa, Italy; Department of Medicine (A.M., C.B., M.T.D., A.F., F.G., S.S., N.V.), Surgery and Neurosciences, University of Siena; Department of Clinical and Experimental Medicine (C.D., G.S., D.T.), University of Pisa; Metabolic Disease Unit (M.A.D., M.S.), AOU Meyer Children Hospital, Florence; Department of Molecular and Developmental Medicine (S.G.), University of Siena, Siena; Pediatric Neurology (R.G., F.M.), AOU Meyer Children Hospital, Florence; Neurophysiopathology Multiple Sclerosis Center Hospital Binaghi (M.A.M.), Cagliari; Pediatric Neurology and Nemo Clinical Centre (E.M.), Fondazione Policlinico Universitario "A. Gemelli IRCSS", Università Cattolica del Sacro Cuore, Rome; and Department of Neurosciences (P.T.), Biomedicine and Movement Sciences, University of Verona, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6705647PMC
October 2019

Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation.

Neurol Sci 2019 Aug 1;40(8):1705-1708. Epub 2019 Apr 1.

Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, via dei Giacinti 2, 56128, Pisa, Italy.

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http://link.springer.com/10.1007/s10072-019-03864-w
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http://dx.doi.org/10.1007/s10072-019-03864-wDOI Listing
August 2019

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

Neuromuscul Disord 2017 May 17;27(5):481-486. Epub 2017 Jan 17.

Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, pz Buonarroti 30, Milan 20145, Italy; Department of Psychology, Catholic University of the Sacred Heart, Largo Gemelli, 1, Milan 20123, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5424884PMC
May 2017

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan.

Biochem Biophys Res Commun 2016 08 10;477(1):137-143. Epub 2016 Jun 10.

Molecular Medicine, IRCCS Stella Maris, Via dei Giacinti 2, 56128, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2016.06.033DOI Listing
August 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

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance.

Pediatr Neurol 2015 May 7;52(5):548-51. Epub 2015 Feb 7.

Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.01.018DOI Listing
May 2015

Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene.

Pediatr Dermatol 2014 Sep-Oct;31(5):612-4. Epub 2013 Jun 12.

Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India.

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http://dx.doi.org/10.1111/pde.12170DOI Listing
May 2015

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).

Neuromuscul Disord 2012 Apr 30;22(4):325-30. Epub 2011 Nov 30.

Department of Neurosciences, Psychiatry and Anaesthesiology University of Messina, Italy.

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http://dx.doi.org/10.1016/j.nmd.2011.10.022DOI Listing
April 2012

Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.

J Inherit Metab Dis 2011 Dec 9;34(6):1225-7. Epub 2011 Aug 9.

Child Neurology and Psychiatry Unit, G. Gaslini Pediatric Institute, Genova, Italy.

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http://dx.doi.org/10.1007/s10545-011-9376-7DOI Listing
December 2011

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.

Biochem Biophys Res Commun 2011 Sep 29;412(4):518-21. Epub 2011 Jun 29.

Unit of Muscular and Neurodegenerative Disease, IRCCS G. Gaslini Institute, Genova, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2011.06.155DOI Listing
September 2011

Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation.

Eur J Paediatr Neurol 2011 Nov 5;15(6):547-50. Epub 2011 Jul 5.

Muscular and Neurodegenerative Disease Unit and Laboratory of Neurogenetics, Institute G. Gaslini, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2011.05.011DOI Listing
November 2011

Delayed diagnosis of glycogen storage disease type III.

J Pediatr Gastroenterol Nutr 2012 Jan;54(1):122-4

Department of Pediatrics, IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy.

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http://dx.doi.org/10.1097/MPG.0b013e318228d806DOI Listing
January 2012

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.

Neurol Res 2011 Jan 31;33(1):24-32. Epub 2010 Aug 31.

Department of Neurosciences, University of Padova, Venetian Institute of Molecular Medicine, Padova, Italy.

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http://dx.doi.org/10.1179/016164110X12767786356390DOI Listing
January 2011

The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.

Neurol Sci 2010 Jun 19;31(3):377-80. Epub 2010 Mar 19.

Section of Neurology and Neurological Rehabilitation, Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Via de Toni 5, 16132, Genoa, Italy.

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http://dx.doi.org/10.1007/s10072-010-0248-yDOI Listing
June 2010

Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.

Neuromuscul Disord 2009 Nov 23;19(11):776-8. Epub 2009 Sep 23.

Department of Neurological Sciences and Vision, Section of Neurology, University of Verona, 37134 Verona, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660900582
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http://dx.doi.org/10.1016/j.nmd.2009.08.007DOI Listing
November 2009

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.

Neuromuscul Disord 2009 Jan;19(1):62-5

IRCCS G. Gaslini Pediatric Institute and University of Genoa, Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2008.10.009DOI Listing
January 2009

Clinical and genetic characterization of Chanarin-Dorfman syndrome.

Biochem Biophys Res Commun 2008 May 11;369(4):1125-8. Epub 2008 Mar 11.

Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2008.03.010DOI Listing
May 2008

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

Biochem Biophys Res Commun 2007 Nov 25;363(4):1033-7. Epub 2007 Sep 25.

Muscular and Neurodegenerative Disease Unit, G. Gaslini Institute and University of Genova, Largo Gaslini 5, 16147 Genova, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2007.09.066DOI Listing
November 2007

Null mutations and lethal congenital form of glycogen storage disease type IV.

Biochem Biophys Res Commun 2007 Sep 24;361(2):445-50. Epub 2007 Jul 24.

Muscular and Neurodegenerative Disease Unit, Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Largo G. Gaslini 5, I-16147 Genova, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2007.07.074DOI Listing
September 2007

Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies.

Neurogenetics 2002 Mar;4(1):37-41

Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA), Antwerpen, Belgium.

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http://dx.doi.org/10.1007/s10048-001-0124-2DOI Listing
March 2002