136 related articles for article (PubMed ID: 34459356)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Identification of Novel Compound Heterozygous Variants of the
He J; Liu X; Liu L; Zeng S; Shan S; Liao Z
Front Genet; 2022; 13():810537. PubMed ID: 35198007
[No Abstract] [Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.
Teive HAG; Camargo CHF; Sato MT; Shiokawa N; Boguszewski CL; Raskin S; Buck C; Seminara SB; Munhoz RP
Cerebellum; 2018 Jun; 17(3):380-385. PubMed ID: 29248984
[TBL] [Abstract][Full Text] [Related]
12. A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.
Peretz RH; Zein WM; Hufnagel RB; Ku C; Godfrey R; Wolfe L; Adams D; Gahl W; Toro C
Am J Med Genet A; 2023 Feb; 191(2):624-629. PubMed ID: 36541585
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.
Zheng R; Zhao Y; Wu J; Wang Y; Liu JL; Zhou ZL; Zhou XT; Chen DN; Liao WH; Li JD
Mol Med Rep; 2018 Jul; 18(1):261-267. PubMed ID: 29749493
[TBL] [Abstract][Full Text] [Related]
16. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic
Nanetti L; Di Bella D; Magri S; Fichera M; Sarto E; Castaldo A; Mongelli A; Baratta S; Fenu S; Moscatelli M; Bonati MT; Martinuzzi A; Mariotti C; Taroni F
Front Neurol; 2021; 12():793547. PubMed ID: 35069422
[TBL] [Abstract][Full Text] [Related]
17. A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhäuser syndrome).
Baroncini A; Franco N; Forabosco A
Clin Genet; 1991 Apr; 39(4):274-7. PubMed ID: 1906382
[TBL] [Abstract][Full Text] [Related]
18. Ophthalmologic findings of Boucher-Neuhäuser syndrome.
Yu SI; Kim JL; Lee SG; Kim HW; Kim SJ
Korean J Ophthalmol; 2008 Dec; 22(4):263-7. PubMed ID: 19096246
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
