C. Angelini

Research interests

Publications

• 229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

  Neuromuscular Disorders · 2018 · https://doi.org/10.1016/j.nmd.2018.05.007

• Regulation of ER-mitochondria contacts by Parkin via Mfn2

  Pharmacological Research · 2018 · 10.1016/j.phrs.2018.09.006

• European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

  European Journal of Neurology · 2017 · https://doi.org/10.1111/ene.13285

• Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

  Nature Protocols · 2012 · https://doi.org/10.1038/nprot.2012.058

• Disruption of skeletal muscle mitochondrial network genes and miRNAs in amyotrophic lateral sclerosis

  Neurobiology of Disease · 2012 · 10.1016/j.nbd.2012.08.015

• EFNS guidelines on the diagnostic approach to pauci‐ or asymptomatic hyperCKemia

  European Journal of Neurology · 2010 · 10.1111/j.1468-1331.2010.03012.x

• SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

  Neurology · 2010 · 10.1212/wnl.0b013e318207afeb

• Reliability of the North Star Ambulatory Assessment in a multicentric setting

  Neuromuscular Disorders · 2009 · 10.1016/j.nmd.2009.06.368

• The role of corticosteroids in muscular dystrophy: A critical appraisal

  Muscle & Nerve · 2007 · 10.1002/mus.20812

• Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb–MyoD pathways in muscle regeneration

  Brain · 2006 · https://doi.org/10.1093/brain/awl023

• Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition

  Neurology · 2005 · 10.1212/01.wnl.0000172859.55579.a7

• Correlating phenotype and genotype in the periodic paralyses

  Neurology · 2004 · https://doi.org/10.1212/01.wnl.0000143383.91137.00

• Cerebellar ataxia and coenzyme Q10 deficiency

  Neurology · 2003 · https://doi.org/10.1212/01.wnl.0000055089.39373.fc

• A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy

  Muscle & Nerve · 2000 · 10.1002/1097-4598(200009)23:9<1344::aid-mus4>3.0.co;2-f

• The NOMAD experiment at the CERN SPS

  Nuclear Instruments and Methods in Physics Research Section A Accelerators Spectrometers Detectors and Associated Equipment · 1998 · https://doi.org/10.1016/s0168-9002(97)01079-6

• Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

  Nature Genetics · 1998 · https://doi.org/10.1038/1682

• Mutations in the Sarcoglycan Genes in Patients with Myopathy

  New England Journal of Medicine · 1997 · 10.1056/nejm199702273360904

• Myocardial Involvement Is Very Frequent Among Patients Affected With Subclinical Becker's Muscular Dystrophy

  Circulation · 1996 · 10.1161/01.cir.94.12.3168

• β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

  Nature Genetics · 1995 · https://doi.org/10.1038/ng1195-266

• Survival Motor-Neuron Gene Transcript Analysis in Muscles from Spinal Muscular-Atrophy Patients

  Biochemical and Biophysical Research Communications · 1995 · 10.1006/bbrc.1995.2135

• MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.

  Proceedings of the National Academy of Sciences · 1992 · https://doi.org/10.1073/pnas.89.10.4221

• MELAS: Clinical features, biochemistry, and molecular genetics

  Annals of Neurology · 1992 · https://doi.org/10.1002/ana.410310408

• Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.

  PubMed · 1991

• Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

  Nature · 1990 · https://doi.org/10.1038/344767a0

• Improved diagnosis of Becker muscular dystrophy by dystrophin testing

  Neurology · 1989 · https://doi.org/10.1212/wnl.39.8.1011

• Systemic Carnitine Deficiency — A Treatable Inherited Lipid-Storage Disease Presenting as Reye's Syndrome

  New England Journal of Medicine · 1980 · https://doi.org/10.1056/nejm198012113032403

• Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

  Science · 1973 · https://doi.org/10.1126/science.179.4076.899

Current projects

No projects listed.