Cardiac pathology in spinal muscular atrophy: a systematic review

The Role of Electrocardiography in the Diagnosis of Spinal Muscular Atrophy Type III

(2015) Goknur Haliloglu et al.   JOURNAL OF PEDIATRICS

Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy

(2015) Laurent P. Bogdanik et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Type 0 spinal muscular atrophy with multisystem involvement

(2015) Sanjeev Khera et al.   INDIAN PEDIATRICS

SMN is required for the maintenance of embryonic stem cells and neuronal differentiation in mice

(2014) Wei-Fang Chang et al.   Brain Structure & Function

Role of the Autonomic Nervous System in Modulating Cardiac Arrhythmias

(2014) Mark J. Shen et al.   CIRCULATION RESEARCH

Systemic Administration of a Recombinant AAV1 Vector Encoding IGF-1 Improves Disease Manifestations in SMA Mice

(2014) Li-Kai Tsai et al.   MOLECULAR THERAPY

Transcriptome Profiling of Spinal Muscular Atrophy Motor Neurons Derived from Mouse Embryonic Stem Cells

(2014) Miho Maeda et al.   PLoS One

SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease

(2014) Darrick K. Li et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

A Short Antisense Oligonucleotide Ameliorates Symptoms of Severe Mouse Models of Spinal Muscular Atrophy

(2014) Jeffrey M Keil et al.   Molecular Therapy-Nucleic Acids

The role of the non-canonical Wnt–planar cell polarity pathway in neural crest migration

(2013) Roberto Mayor et al.   BIOCHEMICAL JOURNAL

Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy

(2013) Melissa S. Cobb et al.   HUMAN MOLECULAR GENETICS

Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

(2013) Monir Shababi et al.   JOURNAL OF ANATOMY

Embryonic Heart Progenitors and Cardiogenesis

(2013) T. Brade et al.   Cold Spring Harbor Perspectives in Medicine

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

An infant with spinal muscular atrophy and tetrology of Fallot

(2012) Barış Ekici et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Incidence and prevalence of atrial fibrillation: an analysis based on 8.3 million patients

(2012) T. Wilke et al.   EUROPACE

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

(2012) Julia Schreml et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models

(2012) Melissa Osborne et al.   HUMAN MOLECULAR GENETICS

Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number

(2012) Juan Parra et al.   Journal of Maternal-Fetal & Neonatal Medicine

Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy

(2012) Monir Shababi et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction

(2012) R. G. Gogliotti et al.   JOURNAL OF NEUROSCIENCE

Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice

(2012) Olivier Biondi et al.   JOURNAL OF PHYSIOLOGY-LONDON

Childhood spinal muscular atrophy: controversies and challenges

(2012) Eugenio Mercuri et al.   LANCET NEUROLOGY

Spinal muscular atrophy: going beyond the motor neuron

(2012) Gillian Hamilton et al.   TRENDS IN MOLECULAR MEDICINE

Spinal Muscular Atrophy

(2011) Stephen J. Kolb   ARCHIVES OF NEUROLOGY

Reversal of neuromuscular blockade with sugammadex in a patient with spinal muscular atrophy type III (Kugelberg–Welander syndrome)

(2011) Hugo Vilela et al.   Journal of Anesthesia

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology

(2011) Mélissa Bowerman et al.   NEUROMUSCULAR DISORDERS

Heart disease in myasthenia gravis

(2010) Håkon Hofstad et al.   ACTA NEUROLOGICA SCANDINAVICA

Spinal muscular atrophy type I combined with atrial septal defect in three sibs

(2010) P. Møller et al.   CLINICAL GENETICS

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

(2010) Christopher R. Heier et al.   HUMAN MOLECULAR GENETICS

Cardiac defects contribute to the pathology of spinal muscular atrophy models

(2010) Monir Shababi et al.   HUMAN MOLECULAR GENETICS

Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

(2010) Adam K. Bevan et al.   HUMAN MOLECULAR GENETICS

Spinal muscular atrophy: mechanisms and therapeutic strategies

(2010) C. L. Lorson et al.   HUMAN MOLECULAR GENETICS

Reduced Survival of Motor Neuron (SMN) Protein in Motor Neuronal Progenitors Functions Cell Autonomously to Cause Spinal Muscular Atrophy in Model Mice Expressing the Human Centromeric (SMN2) Gene

(2010) G.-H. Park et al.   JOURNAL OF NEUROSCIENCE

Digital necroses and vascular thrombosis in severe spinal muscular atrophy

(2010) Sabine Rudnik-Schöneborn et al.   MUSCLE & NERVE

The changing epidemiology of congenital heart disease

(2010) Teun van der Bom et al.   Nature Reviews Cardiology

Factors controlling cardiac neural crest cell migration

(2010) Margaret L. Kirby et al.   Cell Adhesion & Migration

Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy

(2009) Alexandra prufer de Queiroz Campos Araujo et al.   JOURNAL OF PEDIATRICS

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

(2009) Arthur H. M. Burghes et al.   NATURE REVIEWS NEUROSCIENCE

Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature

(2008) Leonie A. Menke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nomenclature for congenital and paediatric cardiac disease: Historical perspectives and The International Pediatric and Congenital Cardiac Code

(2008) Rodney C.G. Franklin et al.   CARDIOLOGY IN THE YOUNG

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

(2008) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS

Malignant Ventricular Arrhythmia in a Case of Adult Onset of Spinal Muscular Atrophy (Kugelberg-Welander Disease)

(2008) MARKUS ROOS et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET

Ramblings in the history of spinal muscular atrophy

(2008) Victor Dubowitz   NEUROMUSCULAR DISORDERS

An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease)

(2008) Satoshi Kuru et al.   NEUROPATHOLOGY