Cargando…

Body mass index in type 2 spinal muscular atrophy: a longitudinal study

The aim of this retrospective study was to review body mass index (BMI) in a large cohort of Italian pediatric type 2 spinal muscular atrophy (SMA) patients, aged between 0 and 20 years and to establish possible differences in relation to a number of variables such as ventilation, motor function, an...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ferrantini, Gloria, Coratti, Giorgia, Onesimo, Roberta, Lucibello, Simona, Bompard, Sarah, Turrini, Ida, Cicala, Graziamaria, Caprarelli, Michela, Pera, Maria Carmela, Bravetti, Chiara, Berti, Beatrice, Giorgio, Valentina, Bruno, Claudio, Brolatti, Noemi, Panicucci, Chiara, D’Amico, Adele, Longo, Antonella, Leoni, Chiara, Sansone, Valeria A., Albamonte, Emilio, Messina, Sonia, Sframeli, Maria, Bertini, Enrico, Pane, Marika, Mercuri, Eugenio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9056453/ https://www.ncbi.nlm.nih.gov/pubmed/35048179 http://dx.doi.org/10.1007/s00431-021-04325-3

Ejemplares similares

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
por: Pera, Maria Carmela, et al.
Publicado: (2020)

Early Gross Motor Milestones in Duchenne Muscular Dystrophy
por: Norcia, Giulia, et al.
Publicado: (2021)

Type I SMA “new natural history”: long‐term data in nusinersen‐treated patients
por: Pane, Marika, et al.
Publicado: (2021)

Caregivers’ Expectations on Possible Functional Changes following Disease-Modifying Treatment in Type II and III Spinal Muscular Atrophy: A Comparative Study
por: Pera, Maria Carmela, et al.
Publicado: (2023)

Nusinersen efficacy data for 24‐month in type 2 and 3 spinal muscular atrophy
por: Pane, Marika, et al.
Publicado: (2022)

Respiratory function and therapeutic expectations in DMD: families experience and perspective
por: Brogna, Claudia, et al.
Publicado: (2020)

Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
por: Pane, Marika, et al.
Publicado: (2023)

Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy
por: Coratti, Giorgia, et al.
Publicado: (2022)

Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
por: Pane, Marika, et al.
Publicado: (2022)

Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module
por: Berti, Beatrice, et al.
Publicado: (2021)

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy
por: Mercuri, Eugenio, et al.
Publicado: (2016)

Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study
por: Brogna, Claudia, et al.
Publicado: (2023)

Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis
por: Coratti, Giorgia, et al.
Publicado: (2021)

Longitudinal natural history of type I spinal muscular atrophy: a critical review
por: Mercuri, Eugenio, et al.
Publicado: (2020)

Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach
por: Trucco, Federica, et al.
Publicado: (2023)

Assessing floppy infants: a new module
por: Cutrona, Costanza, et al.
Publicado: (2022)

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?
por: Vicari, Stefano, et al.
Publicado: (2018)

Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?
por: Pane, Marika, et al.
Publicado: (2023)

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy
por: Bosco, Luca, et al.
Publicado: (2022)

Pediatric Motor Inflammatory Neuropathy: The Role of Antiphospholipid Antibodies
por: Brogna, Claudia, et al.
Publicado: (2020)

Different trajectories in upper limb and gross motor function in spinal muscular atrophy
por: Coratti, Giorgia, et al.
Publicado: (2021)

Language Development in Preschool Duchenne Muscular Dystrophy Boys
por: Chieffo, Daniela Pia Rosaria, et al.
Publicado: (2022)

A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?
por: Chieffo, Daniela P. R., et al.
Publicado: (2023)

Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications
por: Mercuri, Eugenio, et al.
Publicado: (2023)

Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study
por: Trucco, Federica, et al.
Publicado: (2021)

2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants
por: Stimpson, Georgia, et al.
Publicado: (2023)

Nusinersen in pediatric and adult patients with type III spinal muscular atrophy
por: Pera, Maria Carmela, et al.
Publicado: (2021)

SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples
por: Abiusi, Emanuela, et al.
Publicado: (2021)

Early Neurological Assessment in Infants with Hypoxic Ischemic Encephalopathy Treated with Therapeutic Hypothermia
por: Romeo, Domenico M., et al.
Publicado: (2019)

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy
por: Pera, Maria C., et al.
Publicado: (2017)

Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort
por: Catteruccia, Michela, et al.
Publicado: (2013)

Spinal muscular atrophy
por: D'Amico, Adele, et al.
Publicado: (2011)

Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study
por: Chieffo, Daniela, et al.
Publicado: (2015)

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy
por: D’Amico, Adele, et al.
Publicado: (2020)

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
por: Brogna, Claudia, et al.
Publicado: (2019)

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
por: Fusto, Aurora, et al.
Publicado: (2022)

Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients
por: Nuzzo, Tommaso, et al.
Publicado: (2023)

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
por: Brioschi, Simona, et al.
Publicado: (2012)

Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials
por: Mercuri, Eugenio, et al.
Publicado: (2016)

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
por: Pane, Marika, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_4bunif9b7u7cdoked4c1sve9ja