Results 211 to 220 of about 342,419 (394)

Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies. [PDF]

Biomedicines
Todorow V, Hintze S, Schoser B, Meinke P.   +3 more
europepmc   +1 more source

Muscle MRI in patients with dysferlinopathy: Pattern recognition and implications for clinical trialP [PDF]

, 2018
et al,, Harms, Matthew, Pestronk, Alan
core   +1 more source

Progress and prospects of gene therapy clinical trials for the muscular dystrophies.

Human Molecular Genetics, 2016
N. Bengtsson, J. Seto, John K. Hall, J. Chamberlain, G. Odom   +4 more
semanticscholar   +1 more source

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations

Clinical Genetics, EarlyView.
Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Reihaneh Khorasanian, Mariasavina Severino, Morteza Doustmohammadi, Francesca Madia, Siddharth Srivastava, Aisling Quinlan, Dario Paladini, Federico Zara, Marcello Scala   +11 more
wiley   +1 more source

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies. [PDF]

Hum Genomics
Khalilian S, Fathi M, Tangestani R, Larki P, Sayad A, Ghafouri-Fard S, Miryounesi M.   +6 more
europepmc   +1 more source

Effect of DPPD and Ethoxyquin on the Muscular Dystrophy of Carp Induced by Oxidized Saury Oil

, 1967
Takeshi Watanabe, Takao Tsuchiya, Yoshiro HASHIMOTO   +2 more
openalex   +2 more sources

Serum enzyme studies in muscle disease: Part II Serum creatine kinase activity in muscular dystrophy and in other myopathic and neuropathic disorders [PDF]

, 1964
John Pearce, R. J. Pennington, J. N. Walton   +2 more
openalex   +1 more source

Role of Histone Deacetylase and Inhibitors in Cardiovascular Diseases

Cell Proliferation, EarlyView.
HDACs play an important role in the occurrence and development of cardiovascular diseases, such as myocardial hypertrophy, hypertension, and atherosclerosis. HDAC inhibitors have broad prospects for the treatment of CVD, and different HDAC subtypes can act through different mechanisms.
Li‐Ying Zhang, Yue‐Yue Wang, Ri Wen, Tie‐Ning Zhang, Ni Yang   +4 more
wiley   +1 more source

Delivery of genetic medicines for muscular dystrophies. [PDF]

Cell Rep Med
Chulanova Y, Breier D, Peer D.
europepmc   +1 more source

Intellectual Impairment in Muscular Dystrophy [PDF]

, 1965
Victor Dubowitz
openalex   +1 more source