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Characterization of SSBP1-related optic atrophy and foveopathy

Authors : Majida Charif; Béatrice Bocquet; Helena Huguet ...

Subjects: Male; Fovea Centralis; medicine.medical_specialty

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)Scientific ReportsScientific Reports, Nature Publishing Group, 2021, 11 (1), pp.18703. ⟨10.1038/s41598-021-98150-1⟩

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Idebenone increases chance of stabilization/recovery of visual acuity in OPA1‐dominant optic atrophy

Authors : Lidia Di Vito; Giulia Amore; Corrado Zenesini ...

Subjects: Male; 0301 basic medicine; Visual acuity

Source: Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 590-594 (2020)Annals of Clinical and Translational Neurology

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Orphan disease: Cherubism, optic atrophy, and short stature

Authors : Rajoo Ramachandran; Vignesh Dhanapal; Venkata Sai

Subjects: medicine.medical_specialty; genetic structures; R895-920

Source: The Indian Journal of Radiology & ImagingIndian Journal of Radiology and Imaging, Vol 28, Iss 01, Pp 111-114 (2018)

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Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

Authors : Hye-Young Kim; Jihei Sara Lee; Sueng-Han Han

Subjects: 0301 basic medicine; Pathology; medicine.medical_specialty

Source: Ophthalmic Genetics. 40:359-361

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Optical Coherence Tomography of the Retinal Ganglion Cell Complex in Leber's Hereditary Optic Neuropathy and Dominant Optic Atrophy

Authors : Anne Stewart Gority Irvine; Anna Ter-Zakarian; Kaitlin Kogachi

Subjects: Adult; Male; Retinal Ganglion Cells

Source: Current eye research. 44(6)

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An evaluation of genetic causes and environmental risks for bilateral optic atrophy

Authors : Lauren Brady; Amadeo R. Rodriguez; Andrew T. Chen

Subjects: Social Sciences; Biochemistry; GTP Phosphohydrolases

Source: PLoS ONEPLoS ONE, Vol 14, Iss 11, p e0225656 (2019)

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Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1

Authors : Hyun Dae Hong; Jeong Hyun Yoo; Sang Beom Kim

Subjects: 0301 basic medicine; Male; Cancer Research

Source: Molecular Medicine Reports

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Dapsone-induced optic atrophy: a rare case report

Authors : S. Chaudhary; S. Shrestha; Suchana Marahatta

Subjects: Diplopia; Diminution; medicine.medical_specialty

Source: Leprosy Review. 91:291-294

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Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy

Authors : Arif B. Ekici; Jan Kremers; Francesca Pasutto

Subjects: 0301 basic medicine; Male; medicine.medical_specialty

Source: Ophthalmic genetics. 39(6)

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Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy

Authors : Karen Grønskov; Michael Larsen; Gitte J Almind

Subjects: Adult; Male; Retinal Ganglion Cells

Source: Acta Ophthalmologica. 93:762-766

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فلترة النتائج

Characterization of SSBP1-related optic atrophy and foveopathy

Idebenone increases chance of stabilization/recovery of visual acuity in OPA1‐dominant optic atrophy

Orphan disease: Cherubism, optic atrophy, and short stature

Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

Optical Coherence Tomography of the Retinal Ganglion Cell Complex in Leber's Hereditary Optic Neuropathy and Dominant Optic Atrophy

An evaluation of genetic causes and environmental risks for bilateral optic atrophy

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1

Dapsone-induced optic atrophy: a rare case report

Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy

Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy

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