Management and treatment of Andersen-Tawil syndrome (ATS)
V Sansone, R Tawil - Neurotherapeutics, 2007 - Springer
… Andersen-Tawil syndrome (ATS) is a rare periodic paralysis with distinct features and accounts
… Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil …
… Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil …
[HTML][HTML] Andersen-tawil syndrome
A Veerapandiyan, JM Statland, R Tawil - 2018 - europepmc.org
… Tawil R 1 … Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid
muscle weakness (ie, periodic paralysis); ventricular arrhythmias and prolonged QT interval; …
muscle weakness (ie, periodic paralysis); ventricular arrhythmias and prolonged QT interval; …
The primary periodic paralyses: diagnosis, pathogenesis and treatment
Periodic paralyses (PPs) are rare inherited channelopathies that manifest as abnormal, often
potassium (K)-sensitive, muscle membrane excitability leading to episodic flaccid paralysis. …
potassium (K)-sensitive, muscle membrane excitability leading to episodic flaccid paralysis. …
Electrocardiographic Features in Andersen-Tawil Syndrome Patients With KCNJ2 Mutations: Characteristic TU–Wave Patterns Predict the KCNJ2 Genotype
Background— The ECG features of Andersen-Tawil syndrome (ATS) patients with KCNJ2
mutations (ATS1) have not been systematically assessed. This study aimed to define ECG …
mutations (ATS1) have not been systematically assessed. This study aimed to define ECG …
[HTML][HTML] Mutations in Kir2. 1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
NM Plaster, R Tawil, M Tristani-Firouzi, S Canún… - Cell, 2001 - cell.com
Andersen's syndrome is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic
features. We have mapped an Andersen's locus to chromosome 17q23 maximum LOD…
features. We have mapped an Andersen's locus to chromosome 17q23 maximum LOD…
A unifying genetic model for facioscapulohumeral muscular dystrophy
…, GW Padberg, DG Miller, SJ Tapscott, R Tawil… - Science, 2010 - science.org
Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy
in adults that is foremost characterized by progressive wasting of muscles in the upper body. …
in adults that is foremost characterized by progressive wasting of muscles in the upper body. …
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block… - Nature …, 2012 - nature.com
Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4
macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene …
macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene …
A phase I/IItrial of MYO‐029 in adult subjects with muscular dystrophy
…, KM Flanigan, A Pestronk, R Tawil… - Annals of …, 2008 - Wiley Online Library
Objective Myostatin is an endogenous negative regulator of muscle growth and a novel target
for muscle diseases. We conducted a safety trial of a neutralizing antibody to myostatin, …
for muscle diseases. We conducted a safety trial of a neutralizing antibody to myostatin, …
Interferon‐α/β–mediated innate immune mechanisms in dermatomyositis
…, T Burleson, D Sanoudou, R Tawil… - Annals of Neurology …, 2005 - Wiley Online Library
Dermatomyositis has been modeled as an autoimmune disease largely mediated by the
adaptive immune system, including a local humorally mediated response with B and T helper …
adaptive immune system, including a local humorally mediated response with B and T helper …
[HTML][HTML] Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
Andersen syndrome (AS) is a rare, inherited disorder characterized by periodic paralysis,
long QT (LQT) with ventricular arrhythmias, and skeletal developmental abnormalities. We …
long QT (LQT) with ventricular arrhythmias, and skeletal developmental abnormalities. We …