Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK
 alleles in the pathogenesis and molecular diagnosis

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease: Sleepiness and role of Epworth Sleepiness Scale

Neurología (English Edition) ◽

10.1016/j.nrleng.2020.06.007 ◽

2021 ◽

Author(s):

A. Romigi

Keyword(s):

Myotonic Dystrophy ◽

Epworth Sleepiness Scale ◽

Myotonic Dystrophy Type ◽

Steinert's Disease ◽

Steinert’S Disease

Molecular diagnosis of myotonic dystrophy type 1 in Egyptian patients

Middle East Journal of Medical Genetics ◽

10.1097/01.mxe.0000430776.91633.a4 ◽

2013 ◽

Vol 2 (2) ◽

pp. 55-57

Author(s):

Laila K. Effat ◽

Hoda Abdalla ◽

Somia Ismail ◽

Iman El-Hadidi ◽

Dalia Helmi ◽

...

Keyword(s):

Myotonic Dystrophy ◽

Molecular Diagnosis ◽

Myotonic Dystrophy Type ◽

Egyptian Patients

Early onset “electrical” heart failure in myotonic dystrophy type 1 patient: the role of ICD biventricular pacing

Anadolu Kardiyoloji Dergisi/The Anatolian Journal of Cardiology ◽

10.5152/akd.2012.161 ◽

2012 ◽

Author(s):

Vincenzo Russo ◽

Anna Rago ◽

Antonello D Andrea ◽

Luisa Politano ◽

Gerardo Nigro

Keyword(s):

Heart Failure ◽

Myotonic Dystrophy ◽

Early Onset ◽

Biventricular Pacing ◽

Participation and the Role of Neuropsychological Functioning in Myotonic Dystrophy Type 1

Journal of Neuromuscular Diseases ◽

10.3233/jnd-170246 ◽

2018 ◽

Vol 5 (2) ◽

pp. 205-214 ◽

Cited By ~ 5

Author(s):

Caroline Van Heugten ◽

Susan Meuleman ◽

Danique Hellebrekers ◽

Esther Kruitwagen-van Reenen ◽

Johanna Visser-Meily

Keyword(s):

Myotonic Dystrophy ◽

Neuropsychological Functioning ◽

Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy

Clinical Chemistry and Laboratory Medicine (CCLM) ◽

10.1515/cclm-2013-0209 ◽

2013 ◽

Vol 51 (12) ◽

Cited By ~ 8

Author(s):

Gabriella Esposito ◽

Raffaella Ruggiero ◽

Maria Savarese ◽

Giovanni Savarese ◽

Maria Roberta Tremolaterra ◽

...

Keyword(s):

Muscular Dystrophy ◽

Spinal Muscular Atrophy ◽

Myotonic Dystrophy ◽

Molecular Diagnosis ◽

Muscular Atrophy ◽

Neuromuscular Diseases ◽

Becker Muscular Dystrophy ◽

A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1

Neuromuscular Disorders ◽

10.1016/j.nmd.2008.06.366 ◽

2008 ◽

Vol 18 (8) ◽

pp. 641-645 ◽

Cited By ~ 11

Author(s):

R. Cardani ◽

E. Mancinelli ◽

G. Saino ◽

L. Bonavina ◽

G. Meola

Keyword(s):

Smooth Muscle ◽

Myotonic Dystrophy ◽

Myotonic Dystrophy Type ◽

Muscle Contractility ◽

Smooth Muscle Contractility ◽

Putative Role

Role of Potassium Channels in Myogenesis during Myotonic Dystrophy Type 1

Biophysical Journal ◽

10.1016/j.bpj.2012.11.2563 ◽

2013 ◽

Vol 104 (2) ◽

pp. 463a

Author(s):

Rajeev Tajhya

Keyword(s):

Potassium Channels ◽

Myotonic Dystrophy ◽

Role of RNA and MBNL1 Nuclear Foci in Pathomolecular Mechanism in Myotonic Dystrophy Type 1 and Type 2 (PD6.003)

Neurology ◽

10.1212/wnl.78.1_meetingabstracts.pd6.003 ◽

2012 ◽

Vol 78 (Meeting Abstracts 1) ◽

pp. PD6.003-PD6.003

Author(s):

G. Meola ◽

V. Renna ◽

E. Bugiardini ◽

M. Giagnacovo ◽

C. Pellicciari ◽

...

Keyword(s):

Myotonic Dystrophy ◽

Myotonic Dystrophy Type ◽

Nuclear Foci

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

Stem Cell Reports ◽

10.1016/j.stemcr.2015.06.003 ◽

2015 ◽

Vol 5 (2) ◽

pp. 221-231 ◽

Cited By ~ 20

Author(s):

Shira Yanovsky-Dagan ◽

Michal Avitzour ◽

Gheona Altarescu ◽

Paul Renbaum ◽

Talia Eldar-Geva ◽

...

Keyword(s):

Stem Cells ◽

Embryonic Stem Cells ◽

Myotonic Dystrophy ◽

Human Embryonic Stem Cells ◽

Embryonic Stem ◽

Myotonic Dystrophy Type ◽

Ctg Expansion

Toward a more personalized motor function rehabilitation in Myotonic dystrophy type 1: The role of neuroplasticity

PLoS ONE ◽

10.1371/journal.pone.0178470 ◽

2017 ◽

Vol 12 (5) ◽

pp. e0178470 ◽

Cited By ~ 8

Author(s):

Simona Portaro ◽

Antonino Naro ◽

Antonino Chillura ◽

Luana Billeri ◽

Alessia Bramanti ◽

...

Keyword(s):

Myotonic Dystrophy ◽

Motor Function ◽