Results 181 to 190 of about 1,459,190 (233)

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy. [PDF]

Clin Genet
Volk M, Maver A, Vidmar MJ, Trošt N, Višnjar T, Fakin A, Kovač L, Habjan MŠ, Malinar L, Pajić SP, Jerman UD, Romih R, Hawlina M, Peterlin B.   +13 more
europepmc   +1 more source

Spectrum of Hereditary Ataxia in Omani Children. [PDF]

J Clin Med
Al-Habsi A, Al-Thihli K, Al-Ajmi E, Al-Futaisi A, Al-Badi A, Al-Amrani F.   +5 more
europepmc   +1 more source

ALPK1-Associated ROSAH Syndrome in a Polish Pedigree. [PDF]

Genes (Basel)
Pietras-Baczewska A, Chmiel A, Ognik K, Rejdak R, Nowomiejska K.   +4 more
europepmc   +1 more source

Etiologic spectrum and predictors of visual acuity in non-glaucomatous optic atrophy. [PDF]

SAGE Open Med
Sharifi M, Zand A, Sharifi M, Sharifi A.
europepmc   +1 more source

Wolfram syndrome and diabetes mellitus in Aotearoa, New Zealand: Phenotype and response to GLP-1 receptor agonist therapy. [PDF]

Diabet Med
L'Amie A, Vincent AL, Jefferies CA, Braatvedt G, Wiltshire E, Mouat F, Albert BB, Murphy R.   +7 more
europepmc   +1 more source

Mitochondrial Genetic Diseases and Ophthalmic Manifestations: Molecular Pathophysiology, Genetics, and Clinical Management. [PDF]

Int J Mol Sci
Abu-Amero KK.
europepmc   +1 more source

De Novo MFN2 p.Arg95Met in Severe Charcot-Marie-Tooth Disease Type 2A. [PDF]

J Peripher Nerv Syst
Lee HY, Cheng WL, Pan SH, Lee CJ, Wei YH, Liu CS.   +5 more
europepmc   +1 more source

How Early Should I Refer My Patient? The Benefits of a Quick Ophthalmic Referral in Spinocerebellar Ataxias, a Case Series and Literature Review. [PDF]

Brain Sci
Fiscal-Carvajal AB, De-León-Guerra JL, Salinas-Aguirre CE, Ibarra-Ramírez M, Fernández-de-Luna ML, Estrada-Bellmann IE, Arenas-Estala J, Campos-Acevedo LD, Mohamed-Noriega J.   +8 more
europepmc   +1 more source

Multimodal Imaging of Dual BEST1/EFEMP1-Associated Hereditary Macular Disease. [PDF]

J Clin Med
Pawloff M, Hollaus M, Mylonas G, Pircher M, Hitzenberger CK, Pfeifer M, Pulido JS, Holder GE, Sacu S, Ritter M.   +9 more
europepmc   +1 more source

Update on Genetic Chorea. [PDF]

Curr Neurol Neurosci Rep
Ostrozovicova M, Skorvanek M.
europepmc   +1 more source