Joshua Manor

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 4

Top Topics

Human Immunodeficiency Virus

Pulmonary Hypertension

Top Venues

American journal of medical genetics. Part A

Brain : a journal of neurology

Journal of neuroscience research

This page only lists publications with an associated author ORCID identifier.

Publications

Matthew T Snyder, Joshua Manor, Charul Gijavanekar, Elizabeth Mizerik, Stephen F Kralik, Sarah H Elsea, Keren Machol, Lisa Emrick, Fernando Scaglia
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors. American journal of medical genetics. Part A (2023)
Joshua Manor, Daniel G Calame, Charul Gijavanekar, Alyssa Tran, Jawid M Fatih, Seema R Lalani, Elizabeth Mizerik, Mered Parnes, Vidya P Mehta, Adekunle M Adesina, James R Lupski, Fernando Scaglia, Sarah H Elsea
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain : a journal of neurology 145 (5) (2022)
Joshua Manor, Daniela Dinu, Mahshid S Azamian, Weimin Bi, Sandra Darilek, Seema R Lalani
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature. American journal of medical genetics. Part A 185 (10) (2021)
Joshua Manor, Hyunglok Chung, Pranjali K Bhagwat, Michael F Wangler
ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models. Journal of neuroscience research (2021)