Gropman AL - Search Results

1

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.

Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Among authors: gropman al. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 Free article.

2

Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders.

Lichter-Konecki U, Sanz JH; Urea Cycle Disorders Consortium; McCarter R. Lichter-Konecki U, et al. Pediatr Res. 2023 Dec;94(6):2005-2015. doi: 10.1038/s41390-023-02722-y. Epub 2023 Jul 15. Pediatr Res. 2023. PMID: 37454183

3

The behavioral profile of 49,XXXXY and the potential impact of testosterone replacement therapy.

Samango-Sprouse CA, Hamzik MP, Gropman E, Brooks MR, Powell S, Taylor AM, Sadeghin T, Gropman AL. Samango-Sprouse CA, et al. Among authors: gropman al, gropman e. Genet Med. 2023 Jul;25(7):100847. doi: 10.1016/j.gim.2023.100847. Epub 2023 Apr 13. Genet Med. 2023. PMID: 37061875

4

Awakening-Related Bouts of Severe Opisthotonos in GNAO1.

Zea Vera A, DiSabella M, Tochen L, Meltzer M, Gropman A. Zea Vera A, et al. Mov Disord Clin Pract. 2023 Sep 14;10(11):1698-1699. doi: 10.1002/mdc3.13873. eCollection 2023 Nov. Mov Disord Clin Pract. 2023. PMID: 37982118 No abstract available.

5

Applications of near-infrared spectroscopy in epilepsy, with a focus on mitochondrial disorders.

Khaksari K, Chen WL, Chanvanichtrakool M, Taylor A, Kotla R, Gropman AL. Khaksari K, et al. Among authors: gropman al. Neurotherapeutics. 2024 Jan;21(1):e00323. doi: 10.1016/j.neurot.2024.e00323. Epub 2024 Jan 19. Neurotherapeutics. 2024. PMID: 38244258 Free PMC article. Review.

6

Surgical treatment of movement disorders in neurometabolic conditions.

Zea Vera A, Gropman AL. Zea Vera A, et al. Among authors: gropman al. Front Neurol. 2023 Jun 2;14:1205339. doi: 10.3389/fneur.2023.1205339. eCollection 2023. Front Neurol. 2023. PMID: 37333007 Free PMC article. Review.

7

Limitations of Multigene Next-Generation Sequencing Panel for "Cerebral Palsy" Phenotype and Other Complex Movement Disorders.

Eskandar M, Tochen L, Shin MR, Lavenstein B, Meltzer M, Gropman A, Sen K. Eskandar M, et al. Pediatr Neurol. 2023 Dec;149:15-18. doi: 10.1016/j.pediatrneurol.2023.08.040. Epub 2023 Sep 2. Pediatr Neurol. 2023. PMID: 37757660

8

Challenges and opportunities to bridge translational to clinical research for personalized mitochondrial medicine.

Gropman AL, Uittenbogaard MN, Chiaramello AE. Gropman AL, et al. Neurotherapeutics. 2024 Jan;21(1):e00311. doi: 10.1016/j.neurot.2023.e00311. Epub 2024 Jan 19. Neurotherapeutics. 2024. PMID: 38266483 Free PMC article. Review.

9

Incidence of sex chromosome aneuploidy in a prenatal population: 27-year longitudinal study in Northern Italy.

Samango-Sprouse CA, Grati FR, Brooks M, Hamzik MP, Khaksari K, Gropman A, Taylor A, Malvestiti F, Grimi B, Liuti R, Milani S, Chinetti S, Trotta A, Agrati C, Repetti E, Martin KA. Samango-Sprouse CA, et al. Ultrasound Obstet Gynecol. 2023 Aug;62(2):266-272. doi: 10.1002/uog.26201. Ultrasound Obstet Gynecol. 2023. PMID: 36929222

10

Mitochondrial disorders: Emerging paradigms and the road ahead to personalized medicine.

Gropman A, Chandra B. Gropman A, et al. Neurotherapeutics. 2024 Jan;21(1):e00332. doi: 10.1016/j.neurot.2024.e00332. Neurotherapeutics. 2024. PMID: 38355260 Free PMC article. No abstract available.

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