Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

45 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
Haviland I, Hector RD, Swanson LC, Verran AS, Sherrill E, Frazier Z, Denny AM, Lucash J, Zhang B, Dubbs HA, Marsh ED, Weisenberg JL, Leonard H, Crippa M, Cogliati F, Russo S, Suter B, Rajaraman R, Percy AK, Schreiber JM, Demarest S, Benke TA, Chopra M, Yu TW, Olson HE. Haviland I, et al. Among authors: schreiber jm. Am J Med Genet A. 2025 Jan;197(1):e63843. doi: 10.1002/ajmg.a.63843. Epub 2024 Aug 28. Am J Med Genet A. 2025. PMID: 39205479
Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises.
Chanvanichtrakool M, Schreiber JM, Chen WL, Barber J, Zhang A, Ah Mew N, Schulze A, Wilkening G, Nagamani SCS, Gropman A; Urea Cycle Disease Consortium. Chanvanichtrakool M, et al. Among authors: schreiber jm. Pediatr Neurol. 2024 Oct;159:48-55. doi: 10.1016/j.pediatrneurol.2024.06.013. Epub 2024 Jun 29. Pediatr Neurol. 2024. PMID: 39121557
Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epilepsy and/or neurodevelopmental disorders.
Conecker G, Xia MY, Hecker J, Achkar C, Cukiert C, Devries S, Donner E, Fitzgerald MP, Gardella E, Hammer M, Hegde A, Hu C, Kato M, Luo T, Schreiber JM, Wang Y, Kooistra T, Oudin M, Waldrop K, Youngquist JT, Zhang D, Wirrell E, Perry MS. Conecker G, et al. Among authors: schreiber jm. Epilepsia. 2024 Aug;65(8):2322-2338. doi: 10.1111/epi.17992. Epub 2024 May 27. Epilepsia. 2024. PMID: 38802994
Global modified-Delphi consensus on comorbidities and prognosis of SCN8A-related epilepsy and/or neurodevelopmental disorders.
Conecker G, Xia MY, Hecker J, Achkar C, Cukiert C, Devries S, Donner E, Fitzgerald M, Gardella E, Hammer M, Hegde A, Hu C, Kato M, Luo T, Schreiber JM, Wang Y, Kooistra T, Oudin M, Waldrop K, Youngquist JT, Zhang D, Wirrell E, Perry MS. Conecker G, et al. Among authors: schreiber jm. Epilepsia. 2024 Aug;65(8):2308-2321. doi: 10.1111/epi.17991. Epub 2024 May 27. Epilepsia. 2024. PMID: 38802989
45 results