212 related articles for article (PubMed ID: 28863861)
1. Neuromyelitis optica, atypical hemophagocytic lymphohistiocytosis and heterozygous perforin A91V mutation.
Palterer B; Brugnolo F; Sieni E; Barilaro A; Parronchi P
J Neuroimmunol; 2017 Oct; 311():10-13. PubMed ID: 28863861
[TBL] [Abstract][Full Text] [Related]
2. Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects.
Zhang K; Johnson JA; Biroschak J; Villanueva J; Lee SM; Bleesing JJ; Risma KA; Wenstrup RJ; Filipovich AH
Int J Immunogenet; 2007 Aug; 34(4):231-3. PubMed ID: 17627755
[No Abstract] [Full Text] [Related]
3. A91V perforin variation in healthy subjects and FHLH patients.
Busiello R; Fimiani G; Miano MG; Aricò M; Santoro A; Ursini MV; Pignata C
Int J Immunogenet; 2006 Apr; 33(2):123-5. PubMed ID: 16611257
[TBL] [Abstract][Full Text] [Related]
4. Prevalence and disease predisposition of p.A91V perforin in an aged population of European ancestry.
Voskoboinik I; Lacaze P; Jang HS; Flinsenberg T; Fernando SL; Kerridge I; Riaz M; Sebra R; Thia K; Noori T; Schadt EE; McNeil JJ; Trapani JA
Blood; 2020 Feb; 135(8):582-584. PubMed ID: 31932842
[No Abstract] [Full Text] [Related]
5. Brain and spinal cord lesion criteria distinguishes AQP4-positive neuromyelitis optica and MOG-positive disease from multiple sclerosis.
Bensi C; Marrodan M; González A; Chertcoff A; Osa Sanz E; Chaves H; Schteinschnaider A; Correale J; Farez MF
Mult Scler Relat Disord; 2018 Oct; 25():246-250. PubMed ID: 30144694
[TBL] [Abstract][Full Text] [Related]
6. Pediatric familial neuromyelitis optica in two sisters with long term follow-up.
Chuquilin M; Mullaguri N; Weinshenker B
J Clin Neurosci; 2016 Jul; 29():183-4. PubMed ID: 26898580
[TBL] [Abstract][Full Text] [Related]
7. Perforin gene mutation in familial haemophagocytic lymphohistiocytosis: the first reported case from Hong Kong.
Chiang GP; Li CK; Lee V; Cheng FW; Leung AW; Imashuku S; Imamura T; Shing MM
Hong Kong Med J; 2014 Aug; 20(4):339-42. PubMed ID: 25104007
[TBL] [Abstract][Full Text] [Related]
8. Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations.
Ueda I; Kurokawa Y; Koike K; Ito S; Sakata A; Matsumora T; Fukushima T; Morimoto A; Ishii E; Imashuku S
Am J Hematol; 2007 Jun; 82(6):427-32. PubMed ID: 17266056
[TBL] [Abstract][Full Text] [Related]
9. Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection.
Mancebo E; Allende LM; Guzmán M; Paz-Artal E; Gil J; Urrea-Moreno R; Fernández-Cruz E; Gayà A; Calvo J; Arbós A; Durán MA; Canet R; Balanzat J; Udina MA; Vercher FJ
Haematologica; 2006 Sep; 91(9):1257-60. PubMed ID: 16956828
[TBL] [Abstract][Full Text] [Related]
10. Neuromyelitis Optica (Devic's Syndrome): an Appraisal.
Crout TM; Parks LP; Majithia V
Curr Rheumatol Rep; 2016 Aug; 18(8):54. PubMed ID: 27402111
[TBL] [Abstract][Full Text] [Related]
11. Association of Extension of Cervical Cord Lesion and Area Postrema Syndrome With Neuromyelitis Optica Spectrum Disorder.
Dubey D; Pittock SJ; Krecke KN; Flanagan EP
JAMA Neurol; 2017 Mar; 74(3):359-361. PubMed ID: 28097302
[No Abstract] [Full Text] [Related]
12. Neurological symptoms of familial hemophagocytic lymphohistiocytosis type 2.
Wang J; Tuo H; Wu L; Wang X; Wang Z
J Integr Neurosci; 2020 Mar; 19(1):131-135. PubMed ID: 32259894
[TBL] [Abstract][Full Text] [Related]
13. Post-transplantation donor-derived Sezary syndrome in a patient with A91V PRF1 variant hemophagocytic lymphohistiocytosis.
S Mehta R; Torres Cabala CA; DiNardo CD; Daver N; Dabaja B; Rezvani K; Champlin RE; Shpall E; Duvic M
Am J Hematol; 2021 Sep; 96(9):E350-E353. PubMed ID: 34096089
[No Abstract] [Full Text] [Related]
14. Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis.
Al-Jasmi F; Abdelhaleem M; Stockley T; Lee KS; Clarke JT
J Pediatr Hematol Oncol; 2008 Aug; 30(8):621-4. PubMed ID: 18799942
[TBL] [Abstract][Full Text] [Related]
15. A case of seropositive Neuromyelitis Optica in a paediatric patient with co-existing acute nephrotic syndrome.
Volkman T; Hemingway C
Mult Scler Relat Disord; 2017 Nov; 18():103-105. PubMed ID: 29141789
[TBL] [Abstract][Full Text] [Related]
16. Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.
Hu LY; Wan L; Wang QH; Shi XY; Meng Y; Yang XF; Yang G; Zou LP
Front Immunol; 2023; 14():1306338. PubMed ID: 38149249
[TBL] [Abstract][Full Text] [Related]
17. Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report.
Simão LM
Arq Bras Oftalmol; 2012; 75(4):280-2. PubMed ID: 23258662
[TBL] [Abstract][Full Text] [Related]
18. [Flow cytometry in the diagnosis of hemophagocytic lymphohistiocytosis in a case with fatal outcome].
Pállinger E; Erdélyi D; Kovács G; Kriván G; Korponay Z; Fekete G; Szabó A; Falus A; Dérfalvi B
Orv Hetil; 2014 Mar; 155(10):389-95. PubMed ID: 24583560
[TBL] [Abstract][Full Text] [Related]
19. Perforin gene variant A91V in young patients with severe COVID-19.
Cabrera-Marante O; Rodríguez de Frías E; Pleguezuelo DE; Allende LM; Serrano A; Laguna-Goya R; Mancebo ME; Talayero P; Álvarez-Vallina L; Morales P; Castro-Panete MJ; Paz-Artal E
Haematologica; 2020 Dec; 105(12):2844-2846. PubMed ID: 33256384
[No Abstract] [Full Text] [Related]
20. Suspected bacterial meningomyelitis: The first presenting clinical feature of neuromyelitis optica spectrum disorder.
Li X; Lin J; Pan S; Weng Y; Li J; Zhang X; Xia J; Tong Q
J Neuroimmunol; 2017 Aug; 309():68-71. PubMed ID: 28601290
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
