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About 382 results

ALLMedicine™ Emery-Dreifuss Muscular Dystrophy Center

Research & Reviews  191 results

Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Typ...
https://doi.org/10.1097/WNO.0000000000001187
Journal of Neuro-ophthalmology : the Official Journal of ... Douglas KAA, Douglas VP et. al.

Feb 25th, 2021 - Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 5.|2021|Douglas KAA,Douglas VP,Gaier ED,Chwalisz BK,|

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.
https://doi.org/10.1002/jcla.23736
Journal of Clinical Laboratory Analysis; Tao J, Duan J et. al.

Feb 24th, 2021 - Laminopathies caused by LMNA gene mutations are characterized by different clinical manifestations. Among them, cardiac involvement is one of the most severe phenotypes. A 30-year-old man visited the hospital because of palpitations, shortness of ...

The nuclear envelope protein Net39 is essential for muscle nuclear integrity and chroma...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846557
Nature Communications; Ramirez-Martinez A, Zhang Y et. al.

Jan 30th, 2021 - Lamins and transmembrane proteins within the nuclear envelope regulate nuclear structure and chromatin organization. Nuclear envelope transmembrane protein 39 (Net39) is a muscle nuclear envelope protein whose functions in vivo have not been explo...

Familial dilated cardiomyopathy caused by a novel variant in the Lamin A/C gene: a case...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7509919
BMC Cardiovascular Disorders; Huang J, Wan Q et. al.

Sep 23rd, 2020 - Familial dilated cardiomyopathy (FDCM) is most commonly inherited as an autosomal dominant trait. The Lamin A/C (LMNA) gene variants have been identified to be associated with DCM, conductive system disorders, type 2 Emery-Dreifuss muscular dystro...

Emery-Dreifuss muscular dystrophy as a possible cause of coronary embolism.
https://doi.org/10.5603/CJ.2020.0120
Cardiology Journal; Tada A, Konishi T et. al.

Sep 15th, 2020 - Emery-Dreifuss muscular dystrophy as a possible cause of coronary embolism.|2020|Tada A,Konishi T,Sato T,Sato T,Koizumi T,|

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Clinicaltrials.gov  191 results

Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Typ...
https://doi.org/10.1097/WNO.0000000000001187
Journal of Neuro-ophthalmology : the Official Journal of ... Douglas KAA, Douglas VP et. al.

Feb 25th, 2021 - Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 5.|2021|Douglas KAA,Douglas VP,Gaier ED,Chwalisz BK,|

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.
https://doi.org/10.1002/jcla.23736
Journal of Clinical Laboratory Analysis; Tao J, Duan J et. al.

Feb 24th, 2021 - Laminopathies caused by LMNA gene mutations are characterized by different clinical manifestations. Among them, cardiac involvement is one of the most severe phenotypes. A 30-year-old man visited the hospital because of palpitations, shortness of ...

The nuclear envelope protein Net39 is essential for muscle nuclear integrity and chroma...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846557
Nature Communications; Ramirez-Martinez A, Zhang Y et. al.

Jan 30th, 2021 - Lamins and transmembrane proteins within the nuclear envelope regulate nuclear structure and chromatin organization. Nuclear envelope transmembrane protein 39 (Net39) is a muscle nuclear envelope protein whose functions in vivo have not been explo...

Familial dilated cardiomyopathy caused by a novel variant in the Lamin A/C gene: a case...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7509919
BMC Cardiovascular Disorders; Huang J, Wan Q et. al.

Sep 23rd, 2020 - Familial dilated cardiomyopathy (FDCM) is most commonly inherited as an autosomal dominant trait. The Lamin A/C (LMNA) gene variants have been identified to be associated with DCM, conductive system disorders, type 2 Emery-Dreifuss muscular dystro...

Emery-Dreifuss muscular dystrophy as a possible cause of coronary embolism.
https://doi.org/10.5603/CJ.2020.0120
Cardiology Journal; Tada A, Konishi T et. al.

Sep 15th, 2020 - Emery-Dreifuss muscular dystrophy as a possible cause of coronary embolism.|2020|Tada A,Konishi T,Sato T,Sato T,Koizumi T,|

see more →