Lista de obras - Marina Pedemonte - Dominio Público Uruguay

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Clinical and molecular consequences of exon 78 deletion in DMD gene

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2006

Detection of early nocturnal hypoventilation in neuromuscular disorders

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2015

Expanding the clinical spectrum of POMT1 phenotype.

artículo científico publicado en 2006

Expanding the histopathological spectrum of CFL2-related myopathies.

artículo científico publicado en 2018

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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2005

Phenotypic characterization of hypomyelination and congenital cataract.

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Respiratory pattern in a FSDH paediatric population

artículo científico publicado en 2017

Respiratory pattern in a FSHD pediatric population.

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Lista de obras de 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

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

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

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

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

Clinical and molecular consequences of exon 78 deletion in DMD gene

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

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

Detection of early nocturnal hypoventilation in neuromuscular disorders

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

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

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.

Expanding the clinical spectrum of POMT1 phenotype.

Expanding the histopathological spectrum of CFL2-related myopathies.

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

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

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

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

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

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

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

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

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

Phenotypic characterization of hypomyelination and congenital cataract.

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

Respiratory pattern in a FSDH paediatric population

Respiratory pattern in a FSHD pediatric population.

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

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