Results 101 to 110 of about 431,670 (160)

Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]

, 2003
The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
core  

The genetics of rod-cone dystrophy in Arab countries: a systematic review. [PDF]

Eur J Hum Genet, 2021
Jaffal L, Joumaa H, Mrad Z, Zeitz C, Audo I, El Shamieh S.   +5 more
europepmc   +1 more source

Supplementary Material for: GNB1-related rod-cone dystrophy: a case report

Introduction: The GNB1 (guanine nucleotide-binding protein, 1) gene encodes for the ubiquitous 1 subunit of heterotrimeric G proteins which are associated with G-protein-coupled receptors (GPCRs).
Kaminska K. (18008113), Rivolta C. (15344866), Tran H.V. (17709897), Quinodoz M. (15344860), Vaclavik V. (17709891), Conti G.M. (17709888), Cancellieri F. (17462394)   +6 more
core   +1 more source

Establishment of a human induced pluripotent stem cell line (ABi004-A) carrying a compound heterozygous mutation in the KCNV2 gene

Stem Cell Research
Pathogenic variants in the KCNV2 gene can cause a rare retinal dystrophy that can be inherited recessively, known as cone dystrophy with supernormal rod response (CDSRR).
Almaqdad Alsalloum, Kristina Shefer, Pavel Bogdanov, Natalia Mingaleva, Alexander Kim, Sofya Feoktistova, Olga Mityaeva, Pavel Volchkov   +7 more
doaj   +1 more source

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

Int J Mol Sci, 2021
Zeitz C, Méjécase C, Michiels C, Condroyer C, Wohlschlegel J, Foussard M, Antonio A, Démontant V, Emmenegger L, Schalk A, Neuillé M, Orhan E, Augustin S, Bonnet C, Estivalet A, Blond F, Blanchard S, Andrieu C, Chantot-Bastaraud S, Léveillard T, Mohand-Saïd S, Sahel JA, Audo I.   +22 more
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  

Peripapillary vessel density in eyes with cone-rod dystrophy.

PLoS ONE
PurposeTo compared the vessel density (VD) around the optic nerve head (ONH) in eyes with cone-rod dystrophy (CORD) and healthy control eyes in a sector-wise manner and to investigate the relationship between VD around the ONH and visual function in CORD
Masato Shinozuka, Mizuho Arai, Yumeno Hirayama, Yuna Uechi, Shohei Kawasaki, Kazuyoshi Okawa, Yume Iwashita, Misa Miyazato, Kazushi Hirono, Kentaro Nakamura, Tatsuya Inoue, Ryo Asaoka, Yasuo Yanagi, Maiko Maruyama-Inoue, Kazuaki Kadonosono   +14 more
doaj   +1 more source

Deep Learning for Diagnosis of Choroideremia and <i>USH2A</i>-Associated Rod-Cone Dystrophy Using Macular OCT Volumes. [PDF]

Ophthalmol Sci
Mairot K, Meunier I, Bocquet B, Stolowy N, Ramtohul P, Zanlonghi X, Denis D, David T, Matonti F, Perrinet LU.   +9 more
europepmc   +1 more source

USH2A-Mutated Human Retinal Organoids Model Rod-Cone Dystrophy. [PDF]

Invest Ophthalmol Vis Sci
Ashworth KE, Zhang J, D'Amata C, Héon E, Ballios BG.   +4 more
europepmc   +1 more source

Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant. [PDF]

Doc Ophthalmol
Barboni M, Jávorszky E, Quinodoz M, Han JH, Resch M, Nagy ZZ, Rivolta C, Tory K, Szabó V.   +8 more
europepmc   +1 more source