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 *

154 related articles for article (PubMed ID: 30092264)

  • 1. Ocular and systemic manifestations of beta-propeller protein-associated neurodegeneration.
    Tiedemann LM; Reed D; Joseph A; Yoo SH
    J AAPOS; 2018 Oct; 22(5):403-405. PubMed ID: 30092264
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA).
    Hattingen E; Handke N; Cremer K; Hoffjan S; Kukuk GM
    Clin Neuroradiol; 2017 Dec; 27(4):481-483. PubMed ID: 28643035
    [TBL] [Abstract][Full Text] [Related]  

  • 3. High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.
    Nishioka K; Oyama G; Yoshino H; Li Y; Matsushima T; Takeuchi C; Mochizuki Y; Mori-Yoshimura M; Murata M; Yamasita C; Nakamura N; Konishi Y; Ohi K; Ichikawa K; Terada T; Obi T; Funayama M; Saiki S; Hattori N
    Neurobiol Aging; 2015 May; 36(5):2004.e9-2004.e15. PubMed ID: 25744623
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.
    Hornemann F; Le Duc D; Roth C; Pfäffle R; Huhle D; Merkenschlager A
    Neuropediatrics; 2020 Feb; 51(1):22-29. PubMed ID: 31505688
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Neurodegeneration with brain iron accumulation.
    Hayflick SJ; Kurian MA; Hogarth P
    Handb Clin Neurol; 2018; 147():293-305. PubMed ID: 29325618
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.
    Yoganathan S; Arunachal G; Sudhakar SV; Rajaraman V; Thomas M; Danda S
    Neuropediatrics; 2016 Apr; 47(2):123-7. PubMed ID: 26859818
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
    Takano K; Shiba N; Wakui K; Yamaguchi T; Aida N; Inaba Y; Fukushima Y; Kosho T
    Am J Med Genet A; 2016 Feb; 170A(2):322-328. PubMed ID: 26481852
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient.
    Christoforou S; Christodoulou K; Anastasiadou V; Nicolaides P
    Eur J Med Genet; 2020 Mar; 63(3):103765. PubMed ID: 31536831
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Early manifestations of BPAN in a pediatric patient.
    Okamoto N; Ikeda T; Hasegawa T; Yamamoto Y; Kawato K; Komoto T; Imoto I
    Am J Med Genet A; 2014 Dec; 164A(12):3095-9. PubMed ID: 25263061
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of
    Hermann A; Kitzler HH; Pollack T; Biskup S; Krüger S; Funke C; Terrile C; Haack TB
    Tremor Other Hyperkinet Mov (N Y); 2017; 7():465. PubMed ID: 29082105
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.
    Salomão RP; Pedroso JL; Gama MT; Dutra LA; Maciel RH; Godeiro-Junior C; Chien HF; Teive HA; Cardoso F; Barsottini OG
    Arq Neuropsiquiatr; 2016 Jul; 74(7):587-96. PubMed ID: 27487380
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India.
    Bhardwaj NK; Gowda VK; Saini J; Sardesai AV; Santhoshkumar R; Mahadevan A
    Brain Dev; 2021 Nov; 43(10):1013-1022. PubMed ID: 34272103
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations.
    Rohani M; Fasano A; Akhoundi FH; Haeri G; Lang AE; Rahimi Bidgoli MM; Javanparast L; Zamani B; Shahidi G; Alavi A
    Parkinsonism Relat Disord; 2019 Apr; 61():231-233. PubMed ID: 30455156
    [No Abstract]   [Full Text] [Related]  

  • 14. Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.
    Takano K; Goto K; Motobayashi M; Wakui K; Kawamura R; Yamaguchi T; Fukushima Y; Kosho T
    Eur J Med Genet; 2017 Oct; 60(10):521-526. PubMed ID: 28711740
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?
    Skowronska M; Buksinska-Lisik M; Kmiec T; Litwin T; Kurkowska-Jastrzębska I; Czlonkowska A
    Parkinsonism Relat Disord; 2020 Nov; 80():15-18. PubMed ID: 32932022
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Physiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development.
    Noda M; Ito H; Nagata KI
    Sci Rep; 2021 Nov; 11(1):22568. PubMed ID: 34799629
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Time course of serum neuron-specific enolase levels from infancy to early adulthood in a female patient with beta-propeller protein-associated neurodegeneration.
    Hirano S; Suzuki Y; Ikeda T; Okamoto N
    Am J Med Genet A; 2023 May; 191(5):1384-1387. PubMed ID: 36750760
    [TBL] [Abstract][Full Text] [Related]  

  • 18. BPAN: the only X-linked dominant NBIA disorder.
    Haack TB; Hogarth P; Gregory A; Prokisch H; Hayflick SJ
    Int Rev Neurobiol; 2013; 110():85-90. PubMed ID: 24209435
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.
    Van Goethem G; Livingston JH; Warren D; Oojageer AJ; Rice GI; Crow YJ
    Pediatr Neurol; 2014 Dec; 51(6):843-5. PubMed ID: 25301227
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Visual and ocular motor function in the atypical form of neurodegeneration with brain iron accumulation type I.
    Jesus-Ribeiro J; Farinha C; Amorim M; Matos A; Reis A; Lemos J; Castelo-Branco M; Januário C
    Br J Ophthalmol; 2018 Jan; 102(1):102-108. PubMed ID: 28487376
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.