Umbertina Conti Reed

Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Manuela Wiessner, Andreas Roos, Christopher J. Munn et al. · The American Journal of Human Genetics · 2017 · 70 citations · Full text

Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy,

Tanyse Bahia Carvalho Marques, Juliana de Carvalho Neves, Leslie Andrews Portes et al. · Jornal Brasileiro de Pneumologia · 2014 · 60 citations · Full text

Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy

Pablo Brea Winckler, André M. S. da Silva, Antônio R. Coimbra‐Neto et al. · Clinical Genetics · 2019 · 60 citations

Severe brain involvement in 5q spinal muscular atrophy type 0

Rodrigo de Holanda Mendonça, Antônio José Rocha, Andres Lozano‐Arango et al. · Annals of Neurology · 2019 · 51 citations

Neurological Disorder, Brain Injury, Neurology +17

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Pedro M. Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan et al. · Brain · 2019 · 50 citations · Full text