Search Results - "van Os NJH"

A 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen.

Authors: Muneer, Maher Al-Kubati, Anas Al-Ghashm, Asma'a et al.

Source: Clinical Medicine Insights: Case Reports. 12/23/2025, Vol. 18, p1-5. 5p.

Serum alpha fetoprotein in Ataxia Telangiectasia: New lessons about an old biomarker.

Authors: Veenhuis SJG van Os NJH Swinkels AEH et al.

Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2026 Mar; Vol. 61, pp. 42-46. Date of Electronic Publication: 2026 Mar 04.

Publication Type: Journal Article

Journal Info: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

The organizational dimension in rare and complex diseases care management: an application of RarERN Path^© methodology in ataxias, dystonia and phenylketonuria.

Authors: Cannizzo, Sara Quoidbach, Vinciane Trieste, Leopoldo et al.

Source: BMC Health Services Research. 6/4/2025, Vol. 25 Issue 1, p1-10. 10p.

Personalized MRI-based characterization of subcortical anomalies in Ataxia-Telangiectasia using deep-learning.

Authors: Saini, Catalina Salazar-Vilches, Cristian Blanchard, Caroline C.V. et al.

Source: PLoS ONE. 8/29/2025, Vol. 20 Issue 8, p1-14. 14p.

Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes.

Authors: Bakır, Damla Baysal Atay, Özge Yağmur, Halime et al.

Source: Orphanet Journal of Rare Diseases. 10/3/2025, Vol. 20 Issue 1, p1-11. 11p.

Myoclonus dystonia as a predominant manifestation in ataxia telangiectasia.

Authors: Carvalho, Mitosha Mehta, Sahil Singh, Jagdeep et al.

Source: Neurological Sciences. May2025, Vol. 46 Issue 5, p2325-2327. 3p.

Subjects: Motor neurons, Nosology, Nerve conduction studies, Ataxia telangiectasia mutated protein, Ataxia telangiectasia

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts.

Authors: Neves, Renata De Dios Perez, Blanca Panek, Rafal et al.

Source: Cancer Medicine. Jul2023, Vol. 12 Issue 13, p14663-14673. 11p.

Organelle resilience as a comparative blueprint for longevity.

Authors: Cikes D; Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna, Austria. Domagoj.cikes@meduniwien.ac.at.

Source: EMBO molecular medicine [EMBO Mol Med] 2026 May; Vol. 18 (5), pp. 1482-1494. Date of Electronic Publication: 2026 Apr 16.

Publication Type: Journal Article; Review

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

Hematopoietic stem/progenitor cell transplantation recovers immune defects and prevents lymphomas in Atm-deficient mice.

Authors: de Oliveira, Bruna Sabino Pinho Giovinazzo, Alessandro Putti, Sabrina et al.

Source: Experimental Hematology & Oncology. 8/6/2024, Vol. 13 Issue 1, p1-7. 7p.

Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia.

Authors: Veenhuis SJG van Os NJH Janssen AJWM et al.

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Dec; Vol. 36 (12), pp. 2951-2957. Date of Electronic Publication: 2021 Sep 13.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Computational modeling of ATM signaling: a predictive framework for drug repurposing in ataxia-telangiectasia.

Authors: Merulla, Aurora Eliana Di Salvatore, Valentina Gullotta, Giorgia Serena et al.

Source: NPJ Systems Biology & Applications. 11/24/2025, Vol. 11 Issue 1, p1-16. 16p.

Speech assessment tool methods for speech impaired children: a systematic literature review on the state-of-the-art in Speech impairment analysis.

Authors: Usha, Gowri Prasood Alex, John Sahaya Rani

Source: Multimedia Tools & Applications; Sep2023, Vol. 82 Issue 22, p35021-35058, 38p

Feasibility of whole‐body MRI for cancer screening in children and young people with ataxia telangiectasia: A mixed methods cross‐sectional study.

Authors: Neves, Renata Panek, Rafal Clarkson, Katie et al.

Source: Cancer Medicine. Jul2024, Vol. 13 Issue 14, p1-16. 16p.

Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.

Authors: Jenni R Klaa H Chikhaoui A et al.

Source: Journal of translational medicine [J Transl Med] 2026 Feb 19; Vol. 24 (1). Date of Electronic Publication: 2026 Feb 19.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876 (Electronic) Linking ISSN: 14795876 NLM ISO Abbreviation: J Transl Med Subsets: MEDLINE; In Process

Person‐centred integrated care for people living with Parkinson's, Huntington's and Multiple Sclerosis: A systematic review.

Authors: Bartolomeu Pires, Sandra Kunkel, Dorit Kipps, Christopher et al.

Source: Health Expectations. Feb2024, Vol. 27 Issue 1, p1-16. 16p.

Rubella virus vaccine-induced granulomas: a case in children with ataxia-telangiectasia.

Authors: Le Lay, Florine Deparis, Marianna Fraitag, Sylvie et al.

Source: Dermatology Reports. 2024, Vol. 16 Issue 4, p15-17. 3p.

N-acetyl-L-leucine in Neurological Disorders: Mechanisms, Evidence, and Therapeutic Perspectives.

Authors: Abid M Akhtar S Amjad H et al.

Source: Cerebellum (London, England) [Cerebellum] 2026 Apr 28; Vol. 25 (3). Date of Electronic Publication: 2026 Apr 28.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE; In Process

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Authors: Park J Tucci A Cipriani V et al.

Corporate Authors: Park J Tucci A Cipriani V et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2079-2090. Date of Electronic Publication: 2022 Aug 20.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Physicians' use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study.

Authors: Liu, Weida Liu, Peng Guo, Dan et al.

Source: Orphanet Journal of Rare Diseases. 8/10/2023, Vol. 18 Issue 1, p1-9. 9p.

Identification of nonsense variants in the ATM gene mimicking SCID phenotype: a brief report.

Authors: Firtina S Saritas M Ng YY et al.

Source: Immunologic research [Immunol Res] 2025 May 16; Vol. 73 (1), pp. 82. Date of Electronic Publication: 2025 May 16.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 8611087 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-0755 (Electronic) Linking ISSN: 0257277X NLM ISO Abbreviation: Immunol Res Subsets: MEDLINE