Results 211 to 220 of about 1,090,579 (275)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Cumulative incidence and risk factors of dementia in Parkinson's disease and parkinsonism: a population-based study. [PDF]

Brain Commun
Malfer L, Mullan AF, Lynott E, Troxel C, Ali F, Benarroch EE, Boeve BF, Bower JH, Savica R.   +8 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Eculizumab treatment in the salvage therapy of MOGAD: a case report. [PDF]

Front Immunol
Guo Y, Liu M, Zhang Z.
europepmc   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Nanophthalmos presenting with acute refractory angle-closure glaucoma: acute-phase histopathological evidence and bilateral comparative findings. [PDF]

BMC Ophthalmol
Chen C, Li M, Liu Z, Qin C, Sun W, Zhu S, Cai J.   +6 more
europepmc   +1 more source

Evaluation of the effect of brinzolamide 1% ophthalmic suspension on nystagmus using videonystagmography. [PDF]

Indian J Ophthalmol
Kassem RR, Hamdy HS, Hassanein DH, El-Mofty RMA.   +3 more
europepmc   +1 more source