418 related articles for article (PubMed ID: 28051077)
1. FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.
Osmanovic A; Rangnau I; Kosfeld A; Abdulla S; Janssen C; Auber B; Raab P; Preller M; Petri S; Weber RG
Eur J Hum Genet; 2017 Feb; 25(3):324-331. PubMed ID: 28051077
[TBL] [Abstract][Full Text] [Related]
2. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
Chow CY; Landers JE; Bergren SK; Sapp PC; Grant AE; Jones JM; Everett L; Lenk GM; McKenna-Yasek DM; Weisman LS; Figlewicz D; Brown RH; Meisler MH
Am J Hum Genet; 2009 Jan; 84(1):85-8. PubMed ID: 19118816
[TBL] [Abstract][Full Text] [Related]
3. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
Nicholson G; Lenk GM; Reddel SW; Grant AE; Towne CF; Ferguson CJ; Simpson E; Scheuerle A; Yasick M; Hoffman S; Blouin R; Brandt C; Coppola G; Biesecker LG; Batish SD; Meisler MH
Brain; 2011 Jul; 134(Pt 7):1959-71. PubMed ID: 21705420
[TBL] [Abstract][Full Text] [Related]
4. Heterozygous
Osmanovic A; Gogol I; Martens H; Widjaja M; Müller K; Schreiber-Katz O; Feuerhake F; Langhans CD; Schmidt G; Andersen PM; Ludolph AC; Weishaupt JH; Brand F; Petri S; Weber RG
Genes (Basel); 2021 Dec; 13(1):. PubMed ID: 35052424
[TBL] [Abstract][Full Text] [Related]
5. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
Campeau PM; Lenk GM; Lu JT; Bae Y; Burrage L; Turnpenny P; Román Corona-Rivera J; Morandi L; Mora M; Reutter H; Vulto-van Silfhout AT; Faivre L; Haan E; Gibbs RA; Meisler MH; Lee BH
Am J Hum Genet; 2013 May; 92(5):781-91. PubMed ID: 23623387
[TBL] [Abstract][Full Text] [Related]
6. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.
Menezes MP; Waddell L; Lenk GM; Kaur S; MacArthur DG; Meisler MH; Clarke NF
Neuromuscul Disord; 2014 Aug; 24(8):666-70. PubMed ID: 24878229
[TBL] [Abstract][Full Text] [Related]
7. Novel FIG4 mutations in Yunis-Varon syndrome.
Nakajima J; Okamoto N; Shiraishi J; Nishimura G; Nakashima M; Tsurusaki Y; Saitsu H; Kawashima H; Matsumoto N; Miyake N
J Hum Genet; 2013 Dec; 58(12):822-4. PubMed ID: 24088667
[TBL] [Abstract][Full Text] [Related]
8. Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM; Berry IR; Stutterd CA; Blyth M; Green L; Vadlamani G; Warren D; Craven I; Fanjul-Fernandez M; Rodriguez-Casero V; Lockhart PJ; Vanderver A; Simons C; Gibb S; Sadedin S; ; White SM; Christodoulou J; Skibina O; Ruddle J; Tan TY; Leventer RJ; Livingston JH; Meisler MH
Hum Mutat; 2019 May; 40(5):619-630. PubMed ID: 30740813
[TBL] [Abstract][Full Text] [Related]
9. FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
Zimmermann M; Schuster S; Boesch S; Korenke GC; Mohr J; Reichbauer J; Kernstock C; Kotzot D; Spahlinger V; Schüle-Freyer R; Schöls L
Parkinsonism Relat Disord; 2020 May; 74():6-11. PubMed ID: 32268254
[TBL] [Abstract][Full Text] [Related]
10. Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
Wright GC; Brown R; Grayton H; Livingston JH; Park SM; Parker APJ; Patel A; Simonic I; Thomas AG; Vadlamani G; Horvath R; Harijan PD
Clin Genet; 2020 Aug; 98(2):147-154. PubMed ID: 32385905
[TBL] [Abstract][Full Text] [Related]
11. Clinical and genetic features of patients suffering from CMT4J.
Beloribi-Djefaflia S; Morales RJ; Fatehi F; Isapof A; Servais L; Leonard-Louis S; Michaud M; Verdure P; Gidaro T; Pouget J; Poinsignon V; Bonello-Palot N; Attarian S
J Neurol; 2024 Mar; 271(3):1355-1365. PubMed ID: 37950760
[TBL] [Abstract][Full Text] [Related]
12. ALS-associated protein FIG4 is localized in Pick and Lewy bodies, and also neuronal nuclear inclusions, in polyglutamine and intranuclear inclusion body diseases.
Kon T; Mori F; Tanji K; Miki Y; Toyoshima Y; Yoshida M; Sasaki H; Kakita A; Takahashi H; Wakabayashi K
Neuropathology; 2014 Feb; 34(1):19-26. PubMed ID: 23888880
[TBL] [Abstract][Full Text] [Related]
13. Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.
Michaelidou K; Tsiverdis I; Erimaki S; Papadimitriou D; Amoiridis G; Papadimitriou A; Mitsias P; Zaganas I
Mol Genet Genomic Med; 2020 Apr; 8(4):e1141. PubMed ID: 32022442
[TBL] [Abstract][Full Text] [Related]
14. One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.
Abrahao A; Abath Neto O; Kok F; Zanoteli E; Santos B; Pinto WB; Barsottini OG; Oliveira AS; Pedroso JL
J Neurol Sci; 2016 Sep; 368():352-8. PubMed ID: 27538664
[TBL] [Abstract][Full Text] [Related]
15. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
Baulac S; Lenk GM; Dufresnois B; Ouled Amar Bencheikh B; Couarch P; Renard J; Larson PA; Ferguson CJ; Noé E; Poirier K; Hubans C; Ferreira S; Guerrini R; Ouazzani R; El Hachimi KH; Meisler MH; Leguern E
Neurology; 2014 Mar; 82(12):1068-75. PubMed ID: 24598713
[TBL] [Abstract][Full Text] [Related]
16. Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.
Hu B; McCollum M; Ravi V; Arpag S; Moiseev D; Castoro R; Mobley B; Burnette B; Siskind C; Day J; Yawn R; Feely S; Li Y; Yan Q; Shy M; Li J
Ann Neurol; 2018 Apr; 83(4):756-770. PubMed ID: 29518270
[TBL] [Abstract][Full Text] [Related]
17. Novel Variants in the
Liu CY; Lin JL; Feng SY; Che CH; Huang HP; Zou ZY
J Clin Neurol; 2022 Jan; 18(1):41-47. PubMed ID: 35021275
[TBL] [Abstract][Full Text] [Related]
18. The FIG4 gene does not play a major role in causing ALS in Italian patients.
Verdiani S; Origone P; Geroldi A; Bandettini Di Poggio M; Mantero V; Bellone E; Mancardi G; Caponnetto C; Mandich P
Amyotroph Lateral Scler Frontotemporal Degener; 2013 Apr; 14(3):228-9. PubMed ID: 23336365
[No Abstract] [Full Text] [Related]
19. OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.
Goldstein O; Nayshool O; Nefussy B; Traynor BJ; Renton AE; Gana-Weisz M; Drory VE; Orr-Urtreger A
Neurology; 2016 Feb; 86(5):446-53. PubMed ID: 26740678
[TBL] [Abstract][Full Text] [Related]
20. SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.
Osmanovic A; Widjaja M; Förster A; Weder J; Wattjes MP; Lange I; Sarikidi A; Auber B; Raab P; Christians A; Preller M; Petri S; Weber RG
J Neurol; 2020 Sep; 267(9):2732-2743. PubMed ID: 32447552
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
