Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

Autor: Khan, Kamron N., El-Asrag, Mohammed E., Ku, Cristy A., Holder, Graham E., McKibbin, Martin, Arno, Gavin, Poulter, James A., Carss, Keren, Bommireddy, Tejaswi, Bagheri, Saghar, Bakall, Benjamin, Scholl, Hendrik P., Raymond, F. Lucy, Toomes, Carmel, Inglehearn, Chris F., Pennesi, Mark E., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Ali, Manir

PURPOSE. Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 p

Externí odkaz: http://hdl.handle.net/10150/624955
http://arizona.openrepository.com/arizona/handle/10150/624955

A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease.

Autor: da Palma, Mariana Matioli^1,2 (AUTHOR), Ku, Cristy¹ (AUTHOR), Igelman, Austin D.¹ (AUTHOR), Burr, Amanda¹ (AUTHOR), Shevchenko Sutherland, Liliya³ (AUTHOR), Koerner, Celide⁴ (AUTHOR), Valle, David⁴ (AUTHOR), Pennesi, Mark E.¹ (AUTHOR), Yang, Paul¹ (AUTHOR) yangp@ohsu.edu

Publikováno v: Ophthalmic Genetics. Apr2023, Vol. 44 Issue 2, p191-197. 7p.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.

Autor: Igelman, Austin D.¹ (AUTHOR), Ku, Cristy¹ (AUTHOR), da Palma, Mariana Matioli^1,2 (AUTHOR), Georgiou, Michalis^3,4 (AUTHOR), Schiff, Elena R.^3,4 (AUTHOR), Lam, Byron L.⁵ (AUTHOR), Sankila, Eeva-Marja⁶ (AUTHOR), Ahn, Jeeyun^7,8 (AUTHOR), Pyers, Lindsey⁷ (AUTHOR), Vincent, Ajoy^9,10 (AUTHOR), Ferraz Sallum, Juliana Maria² (AUTHOR), Zein, Wadih M.¹¹ (AUTHOR), Oh, Jin Kyun^12,13 (AUTHOR), Maldonado, Ramiro S.¹⁴ (AUTHOR), Ryu, Joseph¹² (AUTHOR), Tsang, Stephen H.^12,15 (AUTHOR), Gorin, Michael B.^7,16 (AUTHOR), Webster, Andrew R.^3,4 (AUTHOR), Michaelides, Michel^3,4 (AUTHOR), Yang, Paul¹ (AUTHOR)

Publikováno v: Ophthalmic Genetics. Dec 2021, Vol. 42 Issue 6, p664-673. 10p.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.