BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

278 related articles for article (PubMed ID: 25301227)

  • 1. 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]  

  • 2. 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]  

  • 3. Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.
    Long M; Abdeen N; Geraghty MT; Hogarth P; Hayflick S; Venkateswaran S
    Pediatrics; 2015 Sep; 136(3):e714-7. PubMed ID: 26240209
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Eye of the tiger sign in a 23 year patient with mitochondrial membrane protein associated neurodegeneration.
    Skowronska M; Kmiec T; Kurkowska-Jastrzębska I; Czlonkowska A
    J Neurol Sci; 2015 May; 352(1-2):110-1. PubMed ID: 25819119
    [No 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. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. [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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Mitochondrial membrane protein-associated neurodegeneration (MPAN).
    Hartig M; Prokisch H; Meitinger T; Klopstock T
    Int Rev Neurobiol; 2013; 110():73-84. PubMed ID: 24209434
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Lessons from a pair of siblings with BPAN.
    Zarate YA; Jones JR; Jones MA; Millan F; Juusola J; Vertino-Bell A; Schaefer GB; Kruer MC
    Eur J Hum Genet; 2016 Jul; 24(7):1080-3. PubMed ID: 26577041
    [TBL] [Abstract][Full Text] [Related]  

  • 19. β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
    Hayflick SJ; Kruer MC; Gregory A; Haack TB; Kurian MA; Houlden HH; Anderson J; Boddaert N; Sanford L; Harik SI; Dandu VH; Nardocci N; Zorzi G; Dunaway T; Tarnopolsky M; Skinner S; Holden KR; Frucht S; Hanspal E; Schrander-Stumpel C; Mignot C; Héron D; Saunders DE; Kaminska M; Lin JP; Lascelles K; Cuno SM; Meyer E; Garavaglia B; Bhatia K; de Silva R; Crisp S; Lunt P; Carey M; Hardy J; Meitinger T; Prokisch H; Hogarth P
    Brain; 2013 Jun; 136(Pt 6):1708-17. PubMed ID: 23687123
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 14.