Results 191 to 200 of about 169,015 (342)

Quantitative ultrasound assessment of Duchenne muscular dystrophy using edge detection analysis [PDF]

, 2016
Aarnink, Arai, Bhansing, Bickerstaffe, Boland, Bushby, Bushby, Canny, Chen, Emery, Gudmundsson, Hammoude, Hoffman, Hou, Jansen, Janssen, Mahmoud, Mazzone, Mazzone, McDonald, Peters, Pillen, Pillen, Rutkove, Schreiber, Shklyar, Torriani, Wu, Zaidman, Zaidman, Zwehl   +30 more
core   +2 more sources

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, EarlyView.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

RESEARCH IN MUSCULAR DYSTROPHY [PDF]

, 1964
W. R. Russell
openalex   +1 more source

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

Clinical Genetics, EarlyView.
We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová, Johana Kopčilová, Kamila Réblová, Magdaléna Soukup Vodičková, Martina Hujňáková, Jana Haberlová, Marie Rohlenová, Radim Mazanec, Jana Šoukalová, Renata Gaillyová, Emílie Vyhnálková, Miroslava Balaščaková, Pavlína Danhofer, Lenka Juříková, Dagmar Grečmalová, Andrea Gřegořová, Pavlína Plevová, Martina Langová, Tomáš Honzík, Martin Magner, Martina Klincová, Pavla Solařová, Mária Šenkeříková, Lenka Fajkusová   +26 more
wiley   +1 more source

Therapeutic options for Duchenne muscular dystrophy: hope or hype? [PDF]

Ther Adv Neurol Disord
Mah JK.
europepmc   +1 more source

Serum enzyme studies in muscle disease: Part III Serum creatine kinase activity in relatives of patients with the Duchenne type of muscular dystrophy

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

ABNORMALITIES OF MUSCLE PROTEIN METABOLISM IN MICE WITH MUSCULAR DYSTROPHY * [PDF]

, 1960
J Kruh, Jean‐Claude Dreyfus, G Schapira, George O. Gey   +3 more
openalex   +1 more source

Elucidating the Role and Mechanism of Alpha‐Enolase in Senescent Amelioration via Metabolic Reprogramming

Cell Proliferation, EarlyView.
KB2764 interacted with alpha‐enolase (ENO1) and pyruvate kinase M (PKM), ultimately leading to PKM phosphorylation of ENO1. KB2764 consequently increased mitochondrial ATP production and decreased glycolysis dependence. Furthermore, the action of KB2764 extends its application to extend the lifespan of Caenorhabditis elegans.
Yun Haeng Lee, Hyunwoong Lim, Gyungmin Kim, Geonhee Jang, Myeong Uk Kuk, Ji Ho Park, Jee hee Yoon, Yoo Jin Lee, Duyeol Kim, Byeonghyeon So, Minseon Kim, Hyung Wook Kwon, Youngjoo Byun, Joon Tae Park   +13 more
wiley   +1 more source

miRNA dysregulation in Duchenne muscular dystrophy comorbidities. [PDF]

World J Exp Med
Sivakumar S, Rajavel A, Viswanathan V, Daniel EA, Gangadaran P, Natesan Sella R.   +5 more
europepmc   +1 more source

The Frank Vectorcardiogram and the Electrocardiogram in Duchenne Progressive Muscular Dystrophy [PDF]

, 1967
Charles W. Fitch, Lorin E. Ainger
openalex   +1 more source