Search Results - "Freihuber C"

Correlation Analysis of Clinical, Imaging, and Genetic Etiologies in Pediatric Hereditary Cerebellar Atrophy: A Single‐Center Study.

Authors: Jin, Luyao Chen, Shuling Liu, Ying et al.

Source: Molecular Genetics & Genomic Medicine. Jul2026, Vol. 14 Issue 7, p1-10. 10p.

Evidence of Oxytosis/Ferroptosis in Niemann–Pick Disease Type C.

Authors: Sanchez, Kayla L. Kim, Jeanyoung White, Jacob B. et al.

Source: International Journal of Molecular Sciences. Apr2025, Vol. 26 Issue 7, p2915. 13p.

Clinical characteristics and treatment outcomes in patients with Niemann–Pick disease type C (NP-C): a cross-sectional study.

Authors: Karimzadeh, Parvaneh Ahmadabadi, Farzad Zeinali, Vahide et al.

Source: Orphanet Journal of Rare Diseases. 8/27/2025, Vol. 20 Issue 1, p1-8. 8p.

Exploration of Bromodomain Proteins as Drug Targets for Niemann–Pick Type C Disease.

Authors: Parente, Martina Barthelemy, Amélie Tonini, Claudia et al.

Source: International Journal of Molecular Sciences. Jun2025, Vol. 26 Issue 12, p5769. 22p.

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.

Authors: Freihuber, Cécile Dahmani-Rabehi, Bahia Brassier, Anaïs et al.

Source: Orphanet Journal of Rare Diseases. 7/21/2023, Vol. 18 Issue 1, p1-12. 12p.

Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives.

Authors: Luís, Marco A. Goes, Marcelo A. D. Santos, Fátima Milhano et al.

Source: Pharmaceutics. Jan2025, Vol. 17 Issue 1, p104. 28p.

Current and Emerging Therapies for Lysosomal Storage Disorders.

Authors: Abelleyra Lastoria DA Keynes S Hughes D

Source: Drugs [Drugs] 2025 Feb; Vol. 85 (2), pp. 171-192. Date of Electronic Publication: 2025 Jan 18.

Publication Type: Journal Article; Review

Journal Info: Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 7600076 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1950 (Electronic) Linking ISSN: 00126667 NLM ISO Abbreviation: Drugs Subsets: MEDLINE

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Authors: Cogan G Zaki MS Issa M et al.

Source: Human genetics [Hum Genet] 2024 Nov; Vol. 143 (11), pp. 1353-1362. Date of Electronic Publication: 2024 Oct 04.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Effect of pyrimethamine treatment on male rat testicular cell population development.

Authors: Gutiérrez‐Pérez, O. Durand‐Montaño, C. Rojas‐Castañeda, J. C. et al.

Source: Andrology. Sep2014, Vol. 2 Issue 5, p780-786. 7p.

Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.

Authors: Riant F Burglen L Corpechot M et al.

Source: Clinical genetics [Clin Genet] 2023 Sep; Vol. 104 (3), pp. 365-370. Date of Electronic Publication: 2023 May 13.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Predictive Performance of Population Pharmacokinetic Models of Levetiracetam in Children and Evaluation of Dosing Regimen.

Authors: Tauzin M Tréluyer JM Nabbout R et al.

Source: Journal of clinical pharmacology [J Clin Pharmacol] 2021 Oct; Vol. 61 (10), pp. 1366-1375. Date of Electronic Publication: 2021 Jun 12.

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

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 0366372 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4604 (Electronic) Linking ISSN: 00912700 NLM ISO Abbreviation: J Clin Pharmacol Subsets: MEDLINE

Dosing Recommendations for Lamotrigine in Children: Evaluation Based on Previous and New Population Pharmacokinetic Models.

Authors: Tauzin M Tréluyer JM Nabbout R et al.

Source: Journal of clinical pharmacology [J Clin Pharmacol] 2021 May; Vol. 61 (5), pp. 677-687. Date of Electronic Publication: 2020 Dec 14.

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

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 0366372 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4604 (Electronic) Linking ISSN: 00912700 NLM ISO Abbreviation: J Clin Pharmacol Subsets: MEDLINE

Lessons learned from 40 novel PIGA patients and a review of the literature.

Authors: Bayat A Knaus A Pendziwiat M et al.

Source: Epilepsia [Epilepsia] 2020 Jun; Vol. 61 (6), pp. 1142-1155. Date of Electronic Publication: 2020 May 26.

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

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

Authors: Maljevic S Keren B Aung YH et al.

Source: Brain : a journal of neurology [Brain] 2019 May 01; Vol. 142 (5), pp. e15.

Publication Type: Letter; Research Support, Non-U.S. Gov't; Comment

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Simulations of Valproate Doses Based on an External Evaluation of Pediatric Population Pharmacokinetic Models.

Authors: Tauzin M Tréluyer JM Nabbout R et al.

Source: Journal of clinical pharmacology [J Clin Pharmacol] 2019 Mar; Vol. 59 (3), pp. 406-417. Date of Electronic Publication: 2018 Nov 09.

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

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 0366372 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4604 (Electronic) Linking ISSN: 00912700 NLM ISO Abbreviation: J Clin Pharmacol Subsets: MEDLINE

Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches.

Authors: Hosseini K Fallahi J Razban V et al.

Source: Cell biochemistry and function [Cell Biochem Funct] 2024 Jun; Vol. 42 (4), pp. e4028.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8305874 Publication Model: Print Cited Medium: Internet ISSN: 1099-0844 (Electronic) Linking ISSN: 02636484 NLM ISO Abbreviation: Cell Biochem Funct Subsets: MEDLINE

Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.

Authors: Yoldas Celik M Yazici H Erdem F et al.

Source: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2024 Jan-Dec; Vol. 66 (1), pp. e15832.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 100886002 Publication Model: Print Cited Medium: Internet ISSN: 1442-200X (Electronic) Linking ISSN: 13288067 NLM ISO Abbreviation: Pediatr Int Subsets: MEDLINE

Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation.

Authors: Crenshaw MM Thompson L Piqué DG et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Dec; Vol. 191 (12), pp. 2860-2867. Date of Electronic Publication: 2023 Aug 17.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.

Authors: Guerrini R Conti V Mantegazza M et al.

Source: Physiological reviews [Physiol Rev] 2023 Jan 01; Vol. 103 (1), pp. 433-513. Date of Electronic Publication: 2022 Aug 11.

Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: American Physiological Society Country of Publication: United States NLM ID: 0231714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1210 (Electronic) Linking ISSN: 00319333 NLM ISO Abbreviation: Physiol Rev Subsets: MEDLINE

Successful administration of mitotane (O, p'-DDD) in pediatric oncology.

Authors: Strobbe G Fraipont F Raimbault S et al.

Source: Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners [J Oncol Pharm Pract] 2022 Oct; Vol. 28 (7), pp. 1637-1640. Date of Electronic Publication: 2022 Jan 31.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: SAGE Publications Country of Publication: England NLM ID: 9511372 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-092X (Electronic) Linking ISSN: 10781552 NLM ISO Abbreviation: J Oncol Pharm Pract Subsets: MEDLINE