252 related articles for article (PubMed ID: 30525879)
1. [Ataxia telangiectasia. A prototype of neurological involvement in primary immune deficiencies].
Liptai Z
Orv Hetil; 2018 Dec; 159(49):2057-2064. PubMed ID: 30525879
[TBL] [Abstract][Full Text] [Related]
2. Ataxia telangiectasia.
Nissenkorn A; Ben-Zeev B
Handb Clin Neurol; 2015; 132():199-214. PubMed ID: 26564081
[TBL] [Abstract][Full Text] [Related]
3. Novel ATM mutations with ataxia-telangiectasia.
Liu XL; Wang T; Huang XJ; Zhou HY; Luan XH; Shen JY; Chen SD; Cao L
Neurosci Lett; 2016 Jan; 611():112-5. PubMed ID: 26628246
[TBL] [Abstract][Full Text] [Related]
4. Ataxia telangiectasia: a review.
Rothblum-Oviatt C; Wright J; Lefton-Greif MA; McGrath-Morrow SA; Crawford TO; Lederman HM
Orphanet J Rare Dis; 2016 Nov; 11(1):159. PubMed ID: 27884168
[TBL] [Abstract][Full Text] [Related]
5. Clinical variability in ataxia-telangiectasia.
Lohmann E; Krüger S; Hauser AK; Hanagasi H; Guven G; Erginel-Unaltuna N; Biskup S; Gasser T
J Neurol; 2015 Jul; 262(7):1724-7. PubMed ID: 25957637
[TBL] [Abstract][Full Text] [Related]
6. Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.
Martin-Rodriguez S; Calvo-Ferrer A; Ortega-Unanue N; Samaniego-Jimenez L; Sanz-Izquierdo MP; Bernardo-Gonzalez I
Ann Hum Genet; 2019 Jul; 83(4):266-273. PubMed ID: 30888062
[TBL] [Abstract][Full Text] [Related]
7. Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.
Levy A; Lang AE
Mov Disord; 2018 Aug; 33(8):1238-1247. PubMed ID: 29436738
[TBL] [Abstract][Full Text] [Related]
8. Ataxia-telangiectasia presenting with a novel immunodeficiency.
Perreault S; Bernard G; Lortie A; Le Deist F; Decaluwe H
Pediatr Neurol; 2012 May; 46(5):322-4. PubMed ID: 22520355
[TBL] [Abstract][Full Text] [Related]
9. A novel mutation in
Algahtani H; Shirah B; Algahtani R; Al-Qahtani MH; Abdulkareem AA; Naseer MI
Int J Neurosci; 2021 Feb; 131(2):206-211. PubMed ID: 32172615
[TBL] [Abstract][Full Text] [Related]
10. Functional classification of ATM variants in ataxia-telangiectasia patients.
Fiévet A; Bellanger D; Rieunier G; Dubois d'Enghien C; Sophie J; Calvas P; Carriere JP; Anheim M; Castrioto A; Flabeau O; Degos B; Ewenczyk C; Mahlaoui N; Touzot F; Suarez F; Hully M; Roubertie A; Aladjidi N; Tison F; Antoine-Poirel H; Dahan K; Doummar D; Nougues MC; Ioos C; Rougeot C; Masurel A; Bourjault C; Ginglinger E; Prieur F; Siri A; Bordigoni P; Nguyen K; Philippe N; Bellesme C; Demeocq F; Altuzarra C; Mathieu-Dramard M; Couderc F; Dörk T; Auger N; Parfait B; Abidallah K; Moncoutier V; Collet A; Stoppa-Lyonnet D; Stern MH
Hum Mutat; 2019 Oct; 40(10):1713-1730. PubMed ID: 31050087
[TBL] [Abstract][Full Text] [Related]
11. [New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].
Ruiz-Botero F; Rodríguez-Guerrero JT
Rev Chil Pediatr; 2017; 88(4):524-528. PubMed ID: 28898322
[TBL] [Abstract][Full Text] [Related]
12. The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
Méneret A; Ahmar-Beaugendre Y; Rieunier G; Mahlaoui N; Gaymard B; Apartis E; Tranchant C; Rivaud-Péchoux S; Degos B; Benyahia B; Suarez F; Maisonobe T; Koenig M; Durr A; Stern MH; Dubois d'Enghien C; Fischer A; Vidailhet M; Stoppa-Lyonnet D; Grabli D; Anheim M
Neurology; 2014 Sep; 83(12):1087-95. PubMed ID: 25122203
[TBL] [Abstract][Full Text] [Related]
13. Identification of ATM mutations in Korean siblings with ataxia-telangiectasia.
Huh HJ; Cho KH; Lee JE; Kwon MJ; Ki CS; Lee PH
Ann Lab Med; 2013 May; 33(3):217-20. PubMed ID: 23667852
[TBL] [Abstract][Full Text] [Related]
14. Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.
Blanchard-Rohner G; Peirolo A; Coulon L; Korff C; Horvath J; Burkhard PR; Gumy-Pause F; Ranza E; Jandus P; Dibra H; Taylor AMR; Fluss J
Front Immunol; 2022; 13():791522. PubMed ID: 35154108
[TBL] [Abstract][Full Text] [Related]
15. Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.
Schoenaker MHD; Van Os NJH; Van der Flier M; Van Deuren M; Seyger MM; Taylor AMR; Weemaes CMR; Willemsen MAAP
Eur J Med Genet; 2018 May; 61(5):284-287. PubMed ID: 29288088
[TBL] [Abstract][Full Text] [Related]
16. Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the ataxia telangiectasia mouse model.
Tassinari V; De Gennaro V; La Sala G; Marazziti D; Bolasco G; Aguanno S; De Angelis L; Naro F; Pellegrini M
J Cell Sci; 2019 Mar; 132(5):. PubMed ID: 30745336
[TBL] [Abstract][Full Text] [Related]
17. Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases.
Sfaihi L; Stoppa Lyonnet D; Ben Ameur S; Dubois D'enghien C; Kamoun T; Barbouch MR; Hachicha M
Tunis Med; 2015; 93(8-9):511-5. PubMed ID: 26815515
[TBL] [Abstract][Full Text] [Related]
18. Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia.
Takada S; Weitering TJ; van Os NJH; Du L; Pico-Knijnenburg I; Kuipers TB; Mei H; Salzer E; Willemsen MAAP; Weemaes CMR; Pan-Hammarstrom Q; van der Burg M
J Allergy Clin Immunol; 2024 May; 153(5):1392-1405. PubMed ID: 38280573
[TBL] [Abstract][Full Text] [Related]
19. More than ataxia - Movement disorders in ataxia-telangiectasia.
Teive HAG; Camargo CHF; Munhoz RP
Parkinsonism Relat Disord; 2018 Jan; 46():3-8. PubMed ID: 29249681
[TBL] [Abstract][Full Text] [Related]
20. Ataxia telangiectasia syndrome: moonlighting ATM.
Zaki-Dizaji M; Akrami SM; Abolhassani H; Rezaei N; Aghamohammadi A
Expert Rev Clin Immunol; 2017 Dec; 13(12):1155-1172. PubMed ID: 29034753
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
