Results 121 to 130 of about 37,333 (227)

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies [PDF]

, 2019
Élise Boulanger-Scemama, Saddek Mohand‐Saïd, Saïd El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean‐Paul Saraiva, Mélanie Letexier, José‐Alain Sahel, Christina Zeitz, Isabelle Audo   +12 more
openalex   +1 more source

Rod‐cone dystrophy in an adult with GNB1‐related disorder: An expansion of the phenotype and natural history [PDF]

, 2023
Xiao‐Ru Yang, Faazil Kassam, A. Micheil Innes   +2 more
openalex   +1 more source

Review for "<i>WDR34</i> , a candidate gene for non‐syndromic rod‐cone dystrophy"

, 2020

openalex   +1 more source

Cone-Rod Dystrophy: Ocular Genetic Studies

Güncel Retina Dergisi (Current Retina Journal)
Cone/Cone-Rod Dystrophy (CD/CRD) constitutes a group of rare inherited retinal disorders characterized by predominant cone cell involvement, with subsequent rod cell degeneration in the later stages of the disease (in the CRD subgroup). In most cases, symptoms manifest within the first decade of life, typically presenting as central vision loss, color ...
Melike ŞENSOY, Eyüpcan ŞENSOY, Mehmet ÇITIRIK   +2 more
openaire   +1 more source

Depleted Calcium Stores and Increased Calcium Entry in Rod Photoreceptors of the Cacna2d4 Mouse Model of Cone-Rod Dystrophy RCD4. [PDF]

Int J Mol Sci, 2022
Vellani V, Mauro G, Demontis GC.
europepmc   +1 more source

Electrophysiology for ophthalmologist (A practical approach)

Journal of Clinical Ophthalmology and Research, 2013
The article deals with the basic understanding of electrophysiological tests in clinical practice. Electrophysiological tests involves assessing the function of the rod-cone system and proximal visual pathway.
Deepak Bhatt
doaj  

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy [PDF]

, 2021
Christina Zeitz, Cécile Méjécase, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, Marine Foussard, Aline Antonio, Vanessa Démontant, Lisa Emmenegger, Audrey Schalk, Marion Neuillé, Elise Orhan, Sébastien Augustin, Crystel Bonnet, Amrit Singh‐Estivalet, Frédéric Blond, Steven G. Blanchard, Camille Andrieu, Sandra Chantot‐Bastaraud, Thierry Léveillard, Saddek Mohand‐Saïd, José‐Alain Sahel, Isabelle Audo   +22 more
openalex   +1 more source

Combined Optic Atrophy and Rod–Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype

, 2020
Firuzeh Rajabian, Maria Pia Manitto, Flavia Palombo, Leonardo Caporali, Alessio Grazioli, Vincenzo Starace, Alessandro Arrigo, Maria Lucia Cascavilla, Chiara La Morgia, Piero Barboni, Francesco Bandello, Valério Carelli, Maurízio Battaglia Parodi   +12 more
openalex   +2 more sources

The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy [PDF]

, 2001
R. Newbold
openalex   +1 more source

Mitochondrial functional impairment in ARL3‐mutation related rod‐cone dystrophy

FASEB BioAdvances
Mitochondria are vital for retinal cell function and survival, and there is growing evidence linking mitochondrial dysfunction to retinal degenerations. Although ARL3 mutations have been linked to multiple forms of retinal degeneration, the relationship ...
Xiaoli Zhang, Shun Yao, Lujia Zhang, Beisi Zhang, Mingzhu Yang, Qingge Guo, Jin Xu, Zhongfeng Wang, Bo Lei, Xiuxiu Jin   +9 more
doaj   +1 more source