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 1 ◽

Myotonic Dystrophy Type ◽

Egyptian Patients

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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) ◽

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 ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type

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

Clinical Genetics ◽

10.1111/cge.12954 ◽

2017 ◽

Vol 92 (4) ◽

pp. 355-364 ◽

Author(s):

M. Santoro ◽

M. Masciullo ◽

G. Silvestri ◽

G. Novelli ◽

A. Botta

Keyword(s):

Myotonic Dystrophy ◽

Molecular Diagnosis ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type

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Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia

BMJ Open ◽

10.1136/bmjopen-2015-010711 ◽

2017 ◽

Vol 7 (3) ◽

pp. e010711 ◽

Author(s):

Kathlin K Ambrose ◽

Taufik Ishak ◽

Lay-Hoong Lian ◽

Khean-Jin Goh ◽

Kum-Thong Wong ◽

...

Keyword(s):

General Population ◽

Myotonic Dystrophy ◽

Molecular Diagnosis ◽

Repeat Length ◽

Length Variation ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type ◽

Dmpk Gene ◽

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Improved method for molecular diagnosis of myotonic dystrophy type 1 (DM1)

Journal of Clinical Laboratory Analysis ◽

10.1002/jcla.20004 ◽

2004 ◽

Vol 18 (1) ◽

pp. 50-54 ◽

Author(s):

Nihan Erginel-Unaltuna ◽

Fahri Akbas

Keyword(s):

Myotonic Dystrophy ◽

Molecular Diagnosis ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type ◽

Improved Method

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945 Electroanatomic features of right atrium in patients affected by myotonic dystrophy type 1

EP Europace ◽

10.1016/s1099-5129(05)80667-1 ◽

2005 ◽

Vol 7 ◽

pp. 227-228

Keyword(s):

Myotonic Dystrophy ◽

Right Atrium ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type

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Cerebral white matter affection in myotonic dystrophy type 1 and 2: a diffusion-tensor-imaging study at 3T

Aktuelle Neurologie ◽

10.1055/s-0028-1086564 ◽

2008 ◽

Vol 35 (S 01) ◽

Author(s):

C Kornblum ◽

J.C Schöne-Bake ◽

S Mirbach ◽

R.C Betz ◽

C Helmstaedter ◽

...

Keyword(s):

Diffusion Tensor Imaging ◽

White Matter ◽

Myotonic Dystrophy ◽

Diffusion Tensor ◽

Imaging Study ◽

Cerebral White Matter ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type ◽

Diffusion Tensor Imaging Study

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SEVERE CONGENITAL MYOTONIC DYSTROPHY TYPE 1

PEDIATRIA Journal named after G N SPERANSKY ◽

10.24110/0031-403x-2018-97-1-78-81 ◽

2018 ◽

Vol 97 (1) ◽

pp. 78-81

Author(s):

E.A. Mamaeva ◽

◽

L.A. Fedorova ◽

S.E. Voronovich ◽

V.D. Nazarov ◽

...

Keyword(s):

Myotonic Dystrophy ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type ◽

Congenital Myotonic Dystrophy

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DM-IMT - Controlled, Randomized, Three-arm Intervention Study on the Safety and Efficacy of Regular Respiratory Muscle Training in Patients With Myotonic Dystrophy Type 1

Case Medical Research ◽

10.31525/ct1-nct04052958 ◽

2019 ◽

Author(s):

Keyword(s):

Myotonic Dystrophy ◽

Respiratory Muscle ◽

Intervention Study ◽

Respiratory Muscle Training ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type ◽

Muscle Training ◽

Safety And Efficacy

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Myotonic Dystrophy Type 1 Aerobic Exercise Study

Case Medical Research ◽

10.31525/ct1-nct04187482 ◽

2019 ◽

Author(s):

Keyword(s):

Aerobic Exercise ◽

Myotonic Dystrophy ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type

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Faculty Opinions recommendation of Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.13986000.15442095 ◽

2012 ◽

Author(s):

Kevin J Luebke

Keyword(s):

Small Molecules ◽

Myotonic Dystrophy ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type

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