These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

113 related articles for article (PubMed ID: 32392611)

  • 1. Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant.
    Giacomini T; Gamucci A; Pisciotta L; Nesti C; Fiorillo C; Doccini S; Morana G; Nobili L; Santorelli FM; Mancardi MM; De Grandis E
    Neuropediatrics; 2020 Dec; 51(6):425-429. PubMed ID: 32392611
    [No Abstract]   [Full Text] [Related]  

  • 2. Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
    Charif M; Nasca A; Thompson K; Gerber S; Makowski C; Mazaheri N; Bris C; Goudenège D; Legati A; Maroofian R; Shariati G; Lamantea E; Hopton S; Ardissone A; Moroni I; Giannotta M; Siegel C; Strom TM; Prokisch H; Vignal-Clermont C; Derrien S; Zanlonghi X; Kaplan J; Hamel CP; Leruez S; Procaccio V; Bonneau D; Reynier P; White FE; Hardy SA; Barbosa IA; Simpson MA; Vara R; Perdomo Trujillo Y; Galehdari H; Deshpande C; Haack TB; Rozet JM; Taylor RW; Ghezzi D; Amati-Bonneau P; Lenaers G
    JAMA Neurol; 2018 Jan; 75(1):105-113. PubMed ID: 29181510
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
    D'Gama AM; England E; Madden JA; Shi J; Chao KR; Wojcik MH; Torres AR; Tan WH; Berry GT; Prabhu SP; Agrawal PB
    Am J Med Genet A; 2021 Jan; 185(1):203-207. PubMed ID: 33037779
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Siblings with optic neuropathy and RTN4IP1 mutation.
    Okamoto N; Miya F; Hatsukawa Y; Suzuki Y; Kawato K; Yamamoto Y; Tsunoda T; Kato M; Saitoh S; Yamasaki M; Kanemura Y; Kosaki K
    J Hum Genet; 2017 Oct; 62(10):927-929. PubMed ID: 28638143
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.
    Zou XH; Guo XX; Su HZ; Wang C; Dong EL; Wang N; Chen WJ; Zhang QJ
    J Mol Neurosci; 2019 Aug; 68(4):640-646. PubMed ID: 31077085
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Novel Homozygous Founder Variant of
    Aldosary M; Alsagob M; AlQudairy H; González-Álvarez AC; Arold ST; Dababo MA; Alharbi OA; Almass R; AlBakheet A; AlSarar D; Qari A; Al-Ansari MM; Oláhová M; Al-Shahrani SA; AlSayed M; Colak D; Taylor RW; AlOwain M; Kaya N
    Cells; 2022 Oct; 11(19):. PubMed ID: 36231115
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
    Ho G; Walter JH; Christodoulou J
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S419-23. PubMed ID: 18985435
    [TBL] [Abstract][Full Text] [Related]  

  • 8. New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
    Martín-Hernández E; Rodríguez-García ME; Camacho A; Matilla-Dueñas A; García-Silva MT; Quijada-Fraile P; Corral-Juan M; Tejada-Palacios P; de Las Heras RS; Arenas J; Martín MA; Martínez-Azorín F
    Neurogenetics; 2016 Oct; 17(4):259-263. PubMed ID: 27679995
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.
    Rajabian F; Manitto MP; Palombo F; Caporali L; Grazioli A; Starace V; Arrigo A; Cascavilla ML; La Morgia C; Barboni P; Bandello F; Carelli V; Battaglia Parodi M
    J Neuroophthalmol; 2021 Sep; 41(3):e290-e292. PubMed ID: 33136666
    [No Abstract]   [Full Text] [Related]  

  • 10. A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
    Arif B; Kumar KR; Seibler P; Vulinovic F; Fatima A; Winkler S; Nürnberg G; Thiele H; Nürnberg P; Jamil AZ; Brüggemann A; Abbas G; Klein C; Naz S; Lohmann K
    JAMA Neurol; 2013 Jun; 70(6):783-7. PubMed ID: 23700088
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel homozygous
    Gaier ED; Sahai I; Wiggs JL; McGeeney B; Hoffman J; Peeler CE
    Ophthalmic Genet; 2019 Dec; 40(6):570-573. PubMed ID: 31928268
    [No Abstract]   [Full Text] [Related]  

  • 12. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
    Angebault C; Guichet PO; Talmat-Amar Y; Charif M; Gerber S; Fares-Taie L; Gueguen N; Halloy F; Moore D; Amati-Bonneau P; Manes G; Hebrard M; Bocquet B; Quiles M; Piro-Mégy C; Teigell M; Delettre C; Rossel M; Meunier I; Preising M; Lorenz B; Carelli V; Chinnery PF; Yu-Wai-Man P; Kaplan J; Roubertie A; Barakat A; Bonneau D; Reynier P; Rozet JM; Bomont P; Hamel CP; Lenaers G
    Am J Hum Genet; 2015 Nov; 97(5):754-60. PubMed ID: 26593267
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
    Lee J; Jung SC; Hong YB; Yoo JH; Koo H; Lee JH; Hong HD; Kim SB; Chung KW; Choi BO
    Mol Med Rep; 2016 Jul; 14(1):33-40. PubMed ID: 27150940
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
    McMillan HJ; Telegrafi A; Singleton A; Cho MT; Lelli D; Lynn FC; Griffin J; Asamoah A; Rinne T; Erasmus CE; Koolen DA; Haaxma CA; Keren B; Doummar D; Mignot C; Thompson I; Velsher L; Dehghani M; Vahidi Mehrjardi MY; Maroofian R; Tchan M; Simons C; Christodoulou J; Martín-Hernández E; Guillen Sacoto MJ; Henderson LB; McLaughlin H; Molday LL; Molday RS; Yoon G
    Orphanet J Rare Dis; 2018 May; 13(1):86. PubMed ID: 30012219
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review.
    Hobbs MM; Wolters WC; Rayapati AO
    J Psychiatr Pract; 2020 Jan; 26(1):58-62. PubMed ID: 31913971
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
    Reinson K; Õiglane-Shlik E; Talvik I; Vaher U; Õunapuu A; Ennok M; Teek R; Pajusalu S; Murumets Ü; Tomberg T; Puusepp S; Piirsoo A; Reimand T; Õunap K
    Am J Med Genet A; 2016 Aug; 170(8):2173-6. PubMed ID: 27250579
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.
    Bitetto G; Malaguti MC; Ceravolo R; Monfrini E; Straniero L; Morini A; Di Giacopo R; Frosini D; Palermo G; Biella F; Ronchi D; Duga S; Taroni F; Corti S; Comi GP; Bresolin N; Giometto B; Di Fonzo A
    Parkinsonism Relat Disord; 2020 May; 74():1-5. PubMed ID: 32259769
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
    Koch J; Feichtinger RG; Freisinger P; Pies M; Schrödl F; Iuso A; Sperl W; Mayr JA; Prokisch H; Haack TB
    J Med Genet; 2016 Apr; 53(4):270-8. PubMed ID: 26783368
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.
    Charlesworth G; Balint B; Mencacci NE; Carr L; Wood NW; Bhatia KP
    Mov Disord; 2016 Aug; 31(8):1249-51. PubMed ID: 27430653
    [No Abstract]   [Full Text] [Related]  

  • 20. Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.
    Carmi N; Lev D; Leshinsky-Silver E; Anikster Y; Blumkin L; Kivity S; Lerman-Sagie T; Zerem A
    Eur J Paediatr Neurol; 2015 Nov; 19(6):733-6. PubMed ID: 26190011
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.