Results 191 to 200 of about 54,763 (333)

Creatine Kinase Levels in Women who Carry Genes for Three Types of Muscular Dystrophy [PDF]

, 1965
K. M. Wilson, K. Evans, C. O. Carter
openalex   +1 more source

RESEARCH IN MUSCULAR DYSTROPHY [PDF]

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

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries

Clinical Genetics, EarlyView.
NEUROMYODredger‐3billion Megaproject was created to provide a genetic diagnosis for 245 children and adults with neurologic disorders in seven countries for free. With whole exome sequencing on a single patient, we could end the diagnostic odyssey in around 30% of cases.
Edoardo Malfatti, Alexandru Caramizaru, Hane Lee, JiHye Kim, Hussein Shoaito, Alessandra Pennisi, Sarah Souvannanorath, François‐Jérôme Authier, Andreea Dumitrescu, Nagia Fahmy, Rosa Elena Escobar‐Cedillo, Antonio Miranda‐Duarte, Alexandra Berenice Luna‐Angulo, Sonia Nouioua, Ouissem Benchaabi, Meriem Tazir, Sihem Hallal, Peggy Martinez, Claudia Castiglioni, Amelia Dobrescu, Homa Tajsharghi   +20 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

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

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

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

Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network. [PDF]

Neurol Genet, 2023
Kang PB, Jorand-Fletcher M, Zhang W, McDermott SW, Berry R, Chambers C, Wong KN, Mohamed Y, Thomas S, Venkatesh YS, Westfield C, Whitehead N, Johnson NE, Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).   +15 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