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

[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; …

The primary periodic paralyses: diagnosis, pathogenesis and treatment

…, MG Hanna, LJ Ptacek, M Tristani-Firouzi, R Tawil… - Brain, 2006 - academic.oup.com
Periodic paralyses (PPs) are rare inherited channelopathies that manifest as abnormal, often
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

…, DW Benson, M Tristani-Firouzi, LJ Ptacek, R Tawil… - Circulation, 2005 - Am Heart Assoc
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 …

[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…

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. …

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 …

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, …

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 …

[HTML][HTML] Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

…, N Plaster, YH Fu, LJ Ptacek, R Tawil - The Journal of …, 2002 - Am Soc Clin Investig
Andersen syndrome (AS) is a rare, inherited disorder characterized by periodic paralysis,
long QT (LQT) with ventricular arrhythmias, and skeletal developmental abnormalities. We …