BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 31505688)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Early-Onset Parkinsonism and Halo Sign: Beta-propeller Proteinassociated Neurodegeneration.
    Samanta D; Ramakrishnaiah R
    J Pediatr Neurosci; 2020; 15(3):325-327. PubMed ID: 33531960
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. [A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].
    Morisada N; Tsuneishi S; Taguchi K; Yagi R; Nishiyama M; Toyoshima D; Nakagawa T; Takeshima Y; Takada S; Iijima K
    No To Hattatsu; 2016 May; 48(3):209-12. PubMed ID: 27349085
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 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 novel
    Wynn DP; Pulst SM
    Neurol Genet; 2017 Feb; 3(1):e124. PubMed ID: 27957548
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Beta-Propeller Protein-Associated Neurodegeneration (BPAN) Detected in a Child with Epileptic Spasms.
    Kaleka G; McCormick ME; Krishnan A
    Cureus; 2019 Aug; 11(8):e5404. PubMed ID: 31632858
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Neurodegeneration with Brain Iron Accumulation: Two Additional Cases with Dystonic Opisthotonus.
    Mehta S; Lal V
    Tremor Other Hyperkinet Mov (N Y); 2019; 9():. PubMed ID: 31489256
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN).
    Ichinose Y; Miwa M; Onohara A; Obi K; Shindo K; Saitsu H; Matsumoto N; Takiyama Y
    Neurol Clin Pract; 2014 Apr; 4(2):175-177. PubMed ID: 24790802
    [TBL] [Abstract][Full Text] [Related]  

  • 17. MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).
    Kimura Y; Sato N; Sugai K; Maruyama S; Ota M; Kamiya K; Ito K; Nakata Y; Sasaki M; Sugimoto H
    Brain Dev; 2013 May; 35(5):458-61. PubMed ID: 22892189
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.