Results 91 to 100 of about 35,422 (230)

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Human Cyclophilins—An Emerging Class of Drug Targets

Medicinal Research Reviews, Volume 46, Issue 2, Page 475-512, March 2026.
ABSTRACT Cyclophilins are a family of enzymes with peptidyl‐prolyl isomerase activity found in all cells of all organisms. To date, 17 cyclophilin isoforms have been identified in the human body, participating in diverse biological processes. Consequently, cyclophilins have emerged as promising targets for drug development to address a wide array of ...
Katarina Jurkova, Hana Navratilova, Kamil Musilek, Ondrej Benek   +3 more
wiley   +1 more source

Genetics of Fukuyama Muscular Dystrophy

Pediatric Neurology Briefs, 1994
The Fukuyama congenital muscular dystrophy (FCMD) chromosome analysis has been further defined at the University of Tokyo; Department of Pediatrics, Tokyo Women’s Medical College; Kobe General Hospital; Aichi Welfare Center, Kasugai; and Nagoya City ...
J Gordon Millichap
doaj   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus–Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies

Muscle &Nerve, Volume 73, Issue 3, Page 485-489, March 2026.
ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Anson W. Wilks, Nizar Chahin
wiley   +1 more source

Transition to adult services for children and young people with palliative care needs : a systematic review [PDF]

, 2009
Objective: To evaluate the evidence on the transition process from child to adult services for young people with palliative care needs. Design: Systematic review Setting: Child and adult services and interface between healthcare providers.
Adi, Y., Carter, Yvonne, Doug, Manjo, Kelly, Daniel, Paul, Moli, Petchey, Roland, Williams, Jacky   +6 more
core   +3 more sources

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Model Organisms in the Fight against Muscular Dystrophy: Lessons from Drosophila and Zebrafish

Molecules, 2015
Muscular dystrophies (MD) are a heterogeneous group of genetic disorders that cause muscle weakness, abnormal contractions and muscle wasting, often leading to premature death.
Emilie Plantié, Marta Migocka-Patrzałek, Małgorzata Daczewska, Krzysztof Jagla   +3 more
doaj   +1 more source

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype [PDF]

, 2016
Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced.
BOZZONI, Irene, Briganti, F, LEGNINI, IVANO, MARTONE, Julie, MORLANDO, MARIANGELA, Picillo, E, Politano, L, STHANDIER, Olga Elena   +7 more
core   +2 more sources

Common data elements of cerebral palsy registries in Arabic‐speaking countries: A scoping review

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 332-342, March 2026.
This scoping review mapped existing cerebral palsy registries in Arabic‐speaking countries, highlighting their core data elements and alignment with international registry frameworks to guide future regional harmonization. This scoping review is commented on by Mushta on pages 303–304 of this issue.
Nihad Ali Almasri, Carl J. Dunst
wiley   +1 more source