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

377 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Yechieli M, Gulsuner S, Ben-Pazi H, Fattal A, Aran A, Kuzminsky A, Sagi L, Guttman D, Schneebaum Sender N, Gross-Tsur V, Klopstock T, Walsh T, Renbaum P, Zeligson S, Shemer Meiri L, Lev D, Shmueli D, Blumkin L, Lahad A, King MC, Levy EL, Segel R. Yechieli M, et al. Among authors: klopstock t. J Med Genet. 2022 Aug;59(8):759-767. doi: 10.1136/jmedgenet-2021-107884. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321325
TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.
Lolas-Hamameh S, Lieberman S, Sarahneh A, Walsh T, Lee MK, Gulsuner S, Rabie G, Beeri R, Aburayyan A, Mandell JB, Fridman H, Lazer-Derbeko G, Klopstock T, Freireich O, Lahad A, King MC, Levy-Lahad E, Kanaan MN. Lolas-Hamameh S, et al. Among authors: klopstock t. J Natl Cancer Inst. 2024 Dec 14:djae334. doi: 10.1093/jnci/djae334. Online ahead of print. J Natl Cancer Inst. 2024. PMID: 39673796
Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.
Lischewski SA, Konrad K, Dogan I, Didszun C, Costa AS, Schawohl SA, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, de Rivera Garrido FJR, Schöls L, Fleszar Z, Klockgether T, Grobe-Einsler M, Giordano I, Rai M, Pandolfo M, Schulz JB, Reetz K; EFACTS study group. Lischewski SA, et al. Among authors: klopstock t. Eur J Neurol. 2025 Jan;32(1):e70011. doi: 10.1111/ene.70011. Eur J Neurol. 2025. PMID: 39797559 Free PMC article.
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy.
Yu-Wai-Man P, Newman NJ, Biousse V, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Degli Esposti S, La Morgia C, Priglinger C, Karanja R, Taiel M, Sahel JA; LHON Study Group. Yu-Wai-Man P, et al. Among authors: klopstock t. JAMA Ophthalmol. 2024 Dec 19. doi: 10.1001/jamaophthalmol.2024.5375. Online ahead of print. JAMA Ophthalmol. 2024. PMID: 39699886
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Karaa A, Bertini E, Carelli V, Cohen B, Ennes GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Abbruscato A, Brown DA, Sullivan A, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: klopstock t. Orphanet J Rare Dis. 2024 Nov 21;19(1):431. doi: 10.1186/s13023-024-03421-5. Orphanet J Rare Dis. 2024. PMID: 39574155 Free PMC article. Clinical Trial.
377 results