List of works by Marina Pedemonte

A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in

scientific article published on 19 February 2018

An observational study of functional abilities in infants, children, and adults with type 1 SMA

scientific article published on 25 July 2018

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2

scientific article published on 01 April 2016

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro

scientific article published on 4 February 2008

Chronic inflammatory demyelinating polyneuropathy of childhood: clinical and neuroradiological findings.

scientific article published on 27 July 2013

Clinical and molecular consequences of exon 78 deletion in DMD gene.

scientific article published on 19 March 2018

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

scientific article published on 06 February 2019

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

scientific article

Detection of early nocturnal hypoventilation in neuromuscular disorders

scientific article

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation

scientific article

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

scientific article published on 21 September 2017

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

scientific article published on 9 April 2015

Expanding the clinical spectrum of POMT1 phenotype.

scientific article published on May 2006

Expanding the histopathological spectrum of CFL2-related myopathies.

scientific article published on 19 February 2018

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

scientific article

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

scientific article published on 31 August 2017

Long-term outcome and need of re-operation in gastro-esophageal reflux surgery in children.

scientific article published on 28 December 2015

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

scientific article published on 07 July 2016

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

scientific article published on 30 April 2017

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

scientific article published on 02 July 2019

Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function

scientific article published on 01 June 2018

Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data

scientific article published on 08 July 2019

Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment

scientific article

Phenotypic characterization of hypomyelination and congenital cataract.

scientific article published in August 2007

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.

scientific article

Respiratory pattern in a FSDH paediatric population

scientific article published on 29 March 2017

Respiratory pattern in a FSHD pediatric population.

scientific article published on 22 August 2016

Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial

scientific article published on 04 June 2018

The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys

scientific article published on 7 October 2014