Results 131 to 140 of about 10,452 (214)

Clinical Validation of a CRX Variant Leading to a Cone-Rod Dystrophy. [PDF]

Cureus
Pagán-Melvin C, Izquierdo N, Alejandro KC.   +2 more
europepmc   +1 more source

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss. [PDF]

Front Cell Dev Biol, 2021
Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Rey AD, Strazisar M, Bertelsen M, Tranebjaerg L, De Baere E.   +21 more
europepmc   +1 more source

Cdhr1a and pcdh15b may link photoreceptor outer segments with calyceal processes revealing a potential mechanism for cone-rod dystrophy. [PDF]

Elife
Patel MK, Piedade WP, Famulski JK.
europepmc   +1 more source

Electrophysiological and Pupillometric Abnormalities in PROM1 Cone-Rod Dystrophy. [PDF]

Transl Vis Sci Technol, 2020
Park JC, Collison FT, Fishman GA, McAnany JJ.   +3 more
europepmc   +1 more source

<i>POC1B</i>-associated cone-rod dystrophy with bilateral optic disc swelling: A novel clinical observation. [PDF]

Am J Ophthalmol Case Rep
Bamardouf N, Alsaidi A, Almhmoudi F, Badeeb N, Danish E.   +4 more
europepmc   +1 more source

Dysfunction of Unc119, a Transducin-Binding Protein, Leads to Cone-Rod Dystrophy through Activating JAK-Stat and NF-κB Inflammatory Pathways in the Mouse Retina. [PDF]

J Neurosci
Kobayashi K, Chaya T, Tu HY, Maeda Y, Nakashima Y, Tsutsumi R, Yamamoto H, Tsujii T, Okuzaki D, Furukawa T.   +9 more
europepmc   +1 more source

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Main, M, Morgan, JE, Straub, V, Feng, L, Sewry, CA, Muntoni, F, Lehovsky, J, Arechavala-Gomeza, V, Kinali, M, Hunt, D, Guglieri, M, Bushby, K, Edge, G   +12 more
core  

<i>Atp1b2^Atp1b1</i> Knock-In Mice Exhibit a Cone-Rod Dystrophy-Like Phenotype. [PDF]

Cells
Bartsch S, Atiskova Y, Schlichting S, Becker E, Herrmann M, Bartsch U.   +5 more
europepmc   +1 more source

Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model. [PDF]

Ophthalmic Genet, 2021
Aleman TS, O'Neil EC, O'Connor K, Jiang YY, Aleman IA, Bennett J, Morgan JIW, Toussaint BW.   +7 more
europepmc   +1 more source

Marcus Gunn Jaw Winking with Electronegative Cone-Rod Dystrophy

, 2015
Marcus Gunn jaw winking syndrome (MGJW) is due to aberrant innervation of the levator palpebrae superioris muscle by the trigeminal nerve. This has been reported with other ocular abnormalities like monocular elevation deficiency and Duane\u27s syndrome1.
Su Ann Lim
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