Results 171 to 180 of about 1,452,519 (228)

Candidate Genes for Non-Syndromic Pediatric Cataracts. [PDF]

Clin Ophthalmol
Rossen JL, Drackley A, Goetsch Weisman A, Ing A, Bohnsack BL.   +4 more
europepmc   +1 more source

Expanding the phenotype of Wolfram syndrome: adult presentation with a novel <i>WFS1</i> variant. [PDF]

JCEM Case Rep
Mehrotra P, Vengadakrishnan, Dubey N.
europepmc   +1 more source

Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy. [PDF]

Brain
Fiorini C, Jurkute N, Torraco A, La Morgia C, Ghezzi D, Tioli G, Rigobello L, Ormanbekova D, Berghella A, Pasti AP, Palombo F, Barboni P, Cascavilla ML, Sadun F, De Negri A, Bertini E, Musumeci O, Ardissone A, Rizza T, Iarossi G, Silvestri G, Rossi S, Altobelli A, Moore AT, Cullup T, Webster AR, Davagnanam I, Michaelides M, Malka S, Ptackova H, Stufkova H, Tesarova M, Liskova P, Zeng L, Klopstock T, Kopajtich R, Neuhofer C, Prokisch H, Lamperti C, Sadun AA, Yu-Wai-Man P, Carelli V, Musiani F, Iommarini L, Carrozzo R, Arno G, Caporali L.   +46 more
europepmc   +1 more source

Clinical phenotype spectrum and prognostic analysis of <i>DNM1L-</i>related disorders: a single-center cohort study of 18 patients. [PDF]

Front Neurol
Xu H, Xu C, Zou Y, Duan X, Song M, Han X, Song T, Liu Y, Fang F.   +8 more
europepmc   +1 more source

Spinal anesthesia for urgent cesarean section in a parturient with RYR1 mutation-associated malignant hyperthermia susceptibility: a case report. [PDF]

Matern Health Neonatol Perinatol
Abaalkhayl M.
europepmc   +1 more source

Late-Onset Rapidly Progressive Spastic Paraplegia with Extensive White Matter Abnormalities Associated with an MFN2 Variant. [PDF]

NeuroSci
Yang J, Park HM, Lee YB.
europepmc   +1 more source

The Neuro-Ophthalmologic Manifestations of <i>SPG7</i>-Associated Disease. [PDF]

J Pers Med
Jauregui R, Diaz Curbelo C, Galetta SL, Grossman SN.   +3 more
europepmc   +1 more source

Genotype-Phenotype Correlation in Dominant Optic Atrophy due to OPA1 c.3011T>C (p.Leu1004Pro): A Family-Based Case Series. [PDF]

J Curr Ophthalmol
Küçük HC, Koçak N, Özizmirliler D, Doğruya S, Devebacak A.   +4 more
europepmc   +1 more source

Full-Field Stimulus Threshold: A Key Functional Outcome Measure in Retinal Diseases and Clinical Trials. [PDF]

J Clin Med
Macha N, Yu M.
europepmc   +1 more source

Heterozygous <i>OGDH</i> Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy. [PDF]

JIMD Rep
Van de Vondel L, Lee GS, De Winter J, Matsuzaki S, Sandoval A, Ramirez JF, Monticelli A, Lee S, Horvath R, de Bleecker J, Züchner S, Humphries KM, Baets J, Yoon WH.   +13 more
europepmc   +1 more source