Hope Northrup
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Explore the profile of Hope Northrup including associated specialties, affiliations and a list of published articles.
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135
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3410
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Recent Articles
1.
Do J, Hashmi S, Northrup H, Farach L, Pearson D, Richardson K
Pediatr Neurol
. 2025 Jan;
164:25-34.
PMID: 39837130
Background: Tuberous sclerosis complex (TSC) is a multisystemic genetic disorder with clinical variability. As the needs of children with TSC may differ, parenting demands may similarly differ. Characterizing parenting stress,...
2.
Capal J, Ritter D, Franz D, Griffith M, Currans K, Kent B, et al.
Ann Child Neurol Soc
. 2024 Dec;
2(2):106-119.
PMID: 39726432
Objective: Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied...
3.
Banks E, Francis V, Lin S, Kharfallah F, Fonov V, Levesque M, et al.
Nat Commun
. 2024 Aug;
15(1):7239.
PMID: 39174524
Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a...
4.
Farach L, Richard M, Wulsin A, Bebin E, Krueger D, Sahin M, et al.
Pediatr Neurol
. 2024 Aug;
159:62-71.
PMID: 39142021
Background: Children with tuberous sclerosis complex (TSC) are at high risk for drug-resistant epilepsy (DRE). The ability to stratify those at highest risk for DRE is important for counseling and...
5.
Smal N, Majdoub F, Janssens K, Reyniers E, Meuwissen M, Ceulemans B, et al.
Eur J Hum Genet
. 2024 Jul;
32(11):1378-1386.
PMID: 38965372
This study aimed to uncover novel genes associated with neurodevelopmental disorders (NDD) by leveraging recent large-scale de novo burden analysis studies to enhance a virtual gene panel used in a...
6.
Morphometric Analysis of Spina Bifida after Fetal Repair Shows New Subtypes with Associated Outcomes
Mann L, Pandiri S, Agarwal N, Northrup H, Au K, Grundberg E, et al.
medRxiv
. 2024 Jun;
PMID: 38853851
Importance: The binary classification of spina bifida lesions as myelomeningocele (with sac) or myeloschisis (without sac) belies a spectrum of morphologies, which have not been correlated to clinical characteristics and...
7.
Samuels M, Northrup H
Am J Med Genet A
. 2024 Jun;
194(10):e63776.
PMID: 38847235
Noonan syndrome (NS) is mostly an autosomal dominant genetic disorder that affects between 1 in 1000 and 1 in 2500 people. Type 1 Chiari malformations (CM1) have an estimated prevalence...
8.
Srivastava S, Yang F, Prohl A, Davis P, Capal J, Filip-Dhima R, et al.
J Child Neurol
. 2024 May;
39(5-6):178-189.
PMID: 38751192
Abnormalities in white matter development may influence development of autism spectrum disorder in tuberous sclerosis complex (TSC). Our goals for this study were as follows: (1) use data from a...
9.
Vong K, Lee S, Au K, Crowley T, Capra V, Martino J, et al.
Science
. 2024 May;
384(6695):584-590.
PMID: 38696583
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida...
10.
Harding C, Longo N, Northrup H, Sacharow S, Singh R, Thomas J, et al.
Mol Genet Metab Rep
. 2024 May;
39:101084.
PMID: 38694233
Phenylketonuria (PKU) is a genetic disorder caused by deficiency of the enzyme phenylalanine hydroxylase (PAH), which results in phenylalanine (Phe) accumulation in the blood and brain, and requires lifelong treatment...