Results 121 to 130 of about 78,813 (265)

The Economic Burden of Duchenne Muscular Dystrophy: A Systematic Review. [PDF]

Pharmacoeconomics
Landfeldt E, Åberg M, Bello L, Deroo V, Born AP, Giusti S, Ekström AB.   +6 more
europepmc   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region. [PDF]

Ital J Pediatr
Güner Özcanyüz D, GüL Mert G, Özcan N, Bilge S, İncecik F, Zorludemir S, Tuğ Bozdoğan S, Hergüner MÖ.   +7 more
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

P643: Unveiling noncoding DMD variants: Synergizing RNA sequencing and DNA sequencing for enhanced molecular diagnosis

Genetics in Medicine Open
Yinghong Pan, Fen Guo, Zeqiang Ma, Babi Ramesh Reddy Nallamilli, Ruby Liu, Kayla Quirin, Ann Martin, Madhuri Hegde   +7 more
doaj   +1 more source

Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study. [PDF]

J Neurol Neurosurg Psychiatry
Riguzzi P, Grover E, Schiava M, James MK, Diaz-Manera J, Tasca G, Bourke J, Borland H, Moat D, Elseed M, Michell-Sodhi J, Bolaño-Díaz C, Wong K, Barreto Haagsma A, Robinson E, Reeves T, Waldock P, Harris E, McCallum M, Gadaleta G, Pegoraro E, Bello L, Messer B, Muni-Lofra R, Straub V, Marini Bettolo C, Guglieri M.   +26 more
europepmc   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Current and Emerging Therapeutic Strategies for the Treatment of Duchenne Muscular Dystrophy. [PDF]

Genes (Basel)
Lopez Perez MA, Weisleder NL.
europepmc   +1 more source

A Systematic Review of Topical and Systemic Gentamicin for Wound Healing in Patients With Junctional and Dystrophic Epidermolysis Bullosa

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Epidermolysis bullosa (EB) is an inherited mechanobullous genodermatosis caused by a mutation in genes encoding proteins integral to skin integrity. Premature termination codon readthrough therapies, such as gentamicin, have promise in facilitating full‐length protein expression in patients with EB.
Kelvin Truong, Joseph Joseph, Deborah Poh, Orli Wargon, Artiene Tatian   +4 more
wiley   +1 more source

Survey of Adrenal Insufficiency Management for Duchenne muscular dystrophy in Italy. [PDF]

Endocrine
Tornese G, Wong SC, Sbrocchi AM, De Angelis F, Zito I, Weber DR, Aversa T.   +6 more
europepmc   +1 more source