241 related articles for article (PubMed ID: 31135245)
1. Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in
O'Neil E; Serrano L; Scoles D; Cunningham KE; Han G; Chiang J; Bennett J; Aleman TS
Ophthalmic Genet; 2019 Jun; 40(3):267-275. PubMed ID: 31135245
[No Abstract] [Full Text] [Related]
2. CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER-NEUHÄUSER SYNDROME.
DeNaro BB; Dhrami-Gavazi E; Rubaltelli DM; Freund KB; Lee W; Yannuzzi LA; Tsang SH; Kang JJ
Retin Cases Brief Rep; 2021 Mar; 15(2):179-184. PubMed ID: 30015775
[TBL] [Abstract][Full Text] [Related]
3. Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.
Deik A; Johannes B; Rucker JC; Sánchez E; Brodie SE; Deegan E; Landy K; Kajiwara Y; Scelsa S; Saunders-Pullman R; Paisán-Ruiz C
J Neurol; 2014 Dec; 261(12):2411-23. PubMed ID: 25267340
[TBL] [Abstract][Full Text] [Related]
4. Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations.
Synofzik M; Kernstock C; Haack TB; Schöls L
J Neurol Neurosurg Psychiatry; 2015 May; 86(5):580-1. PubMed ID: 24790214
[No Abstract] [Full Text] [Related]
5. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Synofzik M; Gonzalez MA; Lourenco CM; Coutelier M; Haack TB; Rebelo A; Hannequin D; Strom TM; Prokisch H; Kernstock C; Durr A; Schöls L; Lima-Martínez MM; Farooq A; Schüle R; Stevanin G; Marques W; Züchner S
Brain; 2014 Jan; 137(Pt 1):69-77. PubMed ID: 24355708
[TBL] [Abstract][Full Text] [Related]
6. Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.
Langdahl JH; Frederiksen AL; Nguyen N; Brusgaard K; Juhl CB
Eur J Med Genet; 2017 Feb; 60(2):105-109. PubMed ID: 27866050
[TBL] [Abstract][Full Text] [Related]
7. Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.
Koh K; Kobayashi F; Miwa M; Shindo K; Isozaki E; Ishiura H; Tsuji S; Takiyama Y
J Hum Genet; 2015 Apr; 60(4):217-20. PubMed ID: 25631098
[TBL] [Abstract][Full Text] [Related]
8. Novel variants in PNPLA6 causing syndromic retinal dystrophy.
Wu S; Sun Z; Zhu T; Weleber RG; Yang P; Wei X; Pennesi ME; Sui R
Exp Eye Res; 2021 Jan; 202():108327. PubMed ID: 33141049
[TBL] [Abstract][Full Text] [Related]
9. Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in
Doğan M; Eröz R; Öztürk E
Ophthalmic Genet; 2021 Jun; 42(3):276-282. PubMed ID: 33650466
[No Abstract] [Full Text] [Related]
10. Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.
Fuerst NM; Serrano L; Han G; Morgan JI; Maguire AM; Leroy BP; Kim BJ; Aleman TS
Ophthalmic Genet; 2016 Dec; 37(4):445-452. PubMed ID: 27028354
[TBL] [Abstract][Full Text] [Related]
11. Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.
Tarnutzer AA; Gerth-Kahlert C; Timmann D; Chang DI; Harmuth F; Bauer P; Straumann D; Synofzik M
J Neurol; 2015 Jan; 262(1):194-202. PubMed ID: 25359264
[TBL] [Abstract][Full Text] [Related]
12. Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
Murro V; Mucciolo DP; Passerini I; Palchetti S; Sodi A; Virgili G; Rizzo S
Graefes Arch Clin Exp Ophthalmol; 2017 Nov; 255(11):2099-2111. PubMed ID: 28752371
[TBL] [Abstract][Full Text] [Related]
13. Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
Liampas A; Nicolaou P; Votsi C; Georghiou A; Christodoulou K; Tanteles GA; Pantzaris M
Mol Biol Rep; 2024 Apr; 51(1):590. PubMed ID: 38683245
[TBL] [Abstract][Full Text] [Related]
14. RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
Aleman TS; Uyhazi KE; Serrano LW; Vasireddy V; Bowman SJ; Ammar MJ; Pearson DJ; Maguire AM; Bennett J
Invest Ophthalmol Vis Sci; 2018 Oct; 59(12):5225-5236. PubMed ID: 30372751
[TBL] [Abstract][Full Text] [Related]
15. Acute Zonal Cone Photoreceptor Outer Segment Loss.
Aleman TS; Sandhu HS; Serrano LW; Traband A; Lau MK; Adamus G; Avery RA
JAMA Ophthalmol; 2017 May; 135(5):487-490. PubMed ID: 28384671
[TBL] [Abstract][Full Text] [Related]
16. DANON DISEASE: A MODEL OF PHOTORECEPTOR DEGENERATION SECONDARY TO PRIMARY RETINAL PIGMENT EPITHELIUM DISEASE.
O'Neil EC; Uyhazi KE; O'Connor K; Aleman IA; Pulido JS; Rossano JW; Aleman TS
Retin Cases Brief Rep; 2022 Nov; 16(6):707-713. PubMed ID: 36288619
[TBL] [Abstract][Full Text] [Related]
17. Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.
Aleman TS; Han G; Serrano LW; Fuerst NM; Charlson ES; Pearson DJ; Chung DC; Traband A; Pan W; Ying GS; Bennett J; Maguire AM; Morgan JI
Ophthalmology; 2017 Mar; 124(3):359-373. PubMed ID: 27986385
[TBL] [Abstract][Full Text] [Related]
18. Neuropsychological assessment of Boucher-Neuhäuser syndrome: A case report.
Merolla S; Borella M; Bassi F; Canonico F; Santilli IM; Grassi MP
Clin Neuropsychol; 2022 Nov; 36(8):2370-2378. PubMed ID: 34459356
[TBL] [Abstract][Full Text] [Related]
19. Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers.
Paavo M; Carvalho JRL; Lee W; Sengillo JD; Tsang SH; Sparrow JR
Invest Ophthalmol Vis Sci; 2019 Sep; 60(12):3752-3761. PubMed ID: 31499530
[TBL] [Abstract][Full Text] [Related]
20. A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
Emekli AS; Samanci B; Şimşir G; Hanagasi HA; Gürvit H; Bilgiç B; Başak AN
Neurol Sci; 2021 Apr; 42(4):1535-1539. PubMed ID: 33210227
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
