Enrico Bertini

Research interests

Publications

• Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

  Neuromuscular Disorders · 2021 · https://doi.org/10.1016/j.nmd.2021.03.007

• Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

  Neuromuscular Disorders · 2019 · https://doi.org/10.1016/j.nmd.2019.09.007

• Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

  Neuromuscular Disorders · 2017 · https://doi.org/10.1016/j.nmd.2017.11.005

• Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

  Neuromuscular Disorders · 2017 · https://doi.org/10.1016/j.nmd.2017.11.005

• Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

  The Lancet · 2017 · https://doi.org/10.1016/s0140-6736(17)31611-2

• Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

  Neuromuscular Disorders · 2017 · https://doi.org/10.1016/j.nmd.2017.11.004

• International Workshop:

  Neuromuscular Disorders · 2017 · https://doi.org/10.1016/j.nmd.2017.08.006

• Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

  Nature Genetics · 2012 · https://doi.org/10.1038/ng.2497

• Childhood spinal muscular atrophy: controversies and challenges

  The Lancet Neurology · 2012 · https://doi.org/10.1016/s1474-4422(12)70061-3

• Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

  Nature Genetics · 2012 · https://doi.org/10.1038/ng.2414

• Spinal muscular atrophy

  Orphanet Journal of Rare Diseases · 2011 · https://doi.org/10.1186/1750-1172-6-71

• The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability

  Neuromuscular Disorders · 2010 · https://doi.org/10.1016/j.nmd.2009.11.014

• Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.423

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

  Neuromuscular Disorders · 2009 · https://doi.org/10.1016/j.nmd.2009.06.368

• Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.373

• Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

  The FASEB Journal · 2007 · https://doi.org/10.1096/fj.06-7285com

• Consensus Statement for Standard of Care in Spinal Muscular Atrophy

  Journal of Child Neurology · 2007 · https://doi.org/10.1177/0883073807305788

• Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

  The American Journal of Human Genetics · 2007 · https://doi.org/10.1086/521373

• Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

  Nature Genetics · 2006 · https://doi.org/10.1038/ng1805

• Cerebellar ataxia and coenzyme Q10 deficiency

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

• Analysis of glutathione: implication in redox and detoxification

  Clinica Chimica Acta · 2003 · https://doi.org/10.1016/s0009-8981(03)00200-6

Current projects

No projects listed.