Forbes D. Porter - Publications, H-index & Citations

Forbes D. Porter

National Institutes of Health

60H指数

287论文数

1.3W被引数

收录论文 140

发表时间

Lack of cathepsin B increases severity in Niemann-Pick disease, type C1 mice 缺乏组织蛋白酶B增加了尼曼-匹克病C1型小鼠的严重程度

Neuroscience Letters

IF2

2026-08-29

PREAI

Rachel Luke; Niamh X. Cawley; Forbes D. Porter

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C 2025年尼曼-皮克病C型的共识临床管理指南

Journal of Inherited Metabolic Disease

IF3.8

2026-04-26

OAAI

Tarekegn Hiwot; Forbes D. Porter; Tatiana Bremova-Ertl; Uma Ramaswami; Caroline Hastings; Bénédicte Héron; Justin Hopkin; Joella Melville; Hernan Amartino; Mireia del Toro; Federica Deodato; Fatih Ezgü; Paul Gissen; James B. Gibson; Can Ficicioglu; Roberto Giugliani; Orna Staretz-Chacham; Frances Platt; Nathalie Guffon; Kristina Julich; Nikola Kresojević; Anna Lehman; Yann Nadjar; Susanne A. Schneider; Simon Jones; Eugen Mengel; Michel Tchan; Mark Walterfang; Ozlem Goker-Alpan; Charlotte Dawson; Sandra Cowie; Toni Mathieson; Elizabeth Berry-Kravis; Marc C. Patterson

Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz综合征患者血清维生素A和维生素E水平

American Journal of Medical Genetics Part A

IF1.7

2025-12-01

PREAI

Bowman, Garrett R.; Rahhal, Samar N.; Porter, Forbes D.

Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1 24(S)-羟基胆固醇作为监测Niemann-Pick病C1型患者长期鞘内adrabetadex疗法的近端生物标志物的效用

Molecular Genetics and Metabolism

IF3.5

2025-10-06

PREAI

Forbes D. Porter; Derek M. Alexander; Orsolya K. Albert; Kendall P. Robbins; Desiree A. Labor; Aiden J. Borruso; Nicole Y. Farhat; Xuntian Jiang; Elizabeth Berry-Kravis

Cholesterol Depletion with U18666A and Methyl-β Cyclodextrin Increased Small Molecule Permeability Across Brain Microvascular Endothelial Cells U18666A和甲基-β-环糊精介导的胆固醇耗竭增加了小分子在脑微血管内皮细胞中的通透性。

Annals of Biomedical Engineering

IF5.4

2025-09-17

OAAI

Bilal Moiz; Viviana Alpizar Vargas; Ken D. Brandon; Gurneet Sangha; Callie Weber; Andrew Li; Tristan Pepper; Matthew Walls; Anthony Qin; Sara Hart; Cristin Davidson; Kimberly Stroka; Forbes D. Porter; Alisa Morss Clyne

Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment NPC1中生物标志物验证：临床 trial 和监管协调的基础

Journal of Inherited Metabolic Disease

IF3.8

2025-08-15

PREAI

Krista Casazza; Stephanie M. Cologna; Elizabeth Berry-Kravis; Jeanine Jarnes; Forbes D. Porter

Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1 Niemann-Pick病C1型患者中AAV2和AAV9中和抗体的流行率

gene therapy

IF4

2025-02-27

PREAI

Mylvara, Avani V.; Davidson, Cristin D.; Alexander, Derek; Venditti, Charles P.; Porter, Forbes D.

Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-09-01

PREAI

Luke, Rachel A.; Cawley, Niamh X.; Rahhal, Samar; Selvaraman, Aishwarya; Thurm, Audrey; Wassif, Christopher A.; Porter, Forbes D.

Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1

JOURNAL OF LIPID RESEARCH

IF4.1

2024-08-01

OAAI

Mishra, Sonali; Kell, Pamela; Scherrer, David; Dietzen, Dennis J.; Vite, Charles H.; Berry-Kravis, Elizabeth; Davidson, Cristin; Cologna, Stephanie M.; Porter, Forbes D.; Ory, Daniel S.; Jiang, Xuntian

Swallowing characterization of adult-onset Niemann-Pick, type C1 patients

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-06-11

OAAI

Solomon, Beth I.; Munoz, Andrea M.; Sinaii, Ninet; Mohamed, Hibaaq; Farhat, Nicole M.; Alexander, Derek; Do, An Dang; Porter, Forbes D.

Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2024-01-18

OAAI

Gabor, Kristin; Mesev, Emily, V; Madenspacher, Jennifer; Meacham, Julie; Rai, Prashant; Moon, Sookjin; Wassif, Christopher A.; Shaikh, Saame Raza; Tucker, C. J.; Karmaus, Peer; Bianconi, Simona; Porter, Forbes D.; Fessler, Michael B.

Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-11-01

OAAI

Cawley, Niamh X.; Giddens, Spencer; Farhat, Nicole M.; Luke, Rachel A.; Scott, Katelin E. J.; Mohamed, Hibaaq O.; Do, An Dang; Berry-Kravis, Elizabeth; Cologna, Stephanie M.; Liu, Fang; Porter, Forbes D.

Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

BMC GENOMICS

IF3.7

2023-08-16

OAAI

Lyons, Erica L.; Watson, Daniel; Alodadi, Mohammad S.; Haugabook, Sharie J.; Tawa, Gregory J.; Hannah-Shmouni, Fady; Porter, Forbes D.; Collins, Jack R.; Ottinger, Elizabeth A.; Mudunuri, Uma S.

Cerebrospinal Fluid Protein Biomarker Discovery in CLN3

JOURNAL OF PROTEOME RESEARCH

IF3.6

2023-06-20

OAAI

Do, An N. Dang N.; Sleat, David E. E.; Campbell, Kiersten; Johnson, Nicholas L. L.; Zheng, Haiyan; Wassif, Christopher A. A.; Dale, Ryan K. K.; Porter, Forbes D. D.

Brain proton MR spectroscopy measurements in CLN3 disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-05-01

OAAI

Do, An N. Dang; Baker, Eva H.; Farmer, Cristan A.; Soldatos, Ariane G.; Thurm, Audrey E.; Porter, Forbes D.

Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1

GENETICS IN MEDICINE

IF6.2

2023-03-01

OAAI

Agrawal, Neena; Farhat, Nicole Y.; Sinaii, Ninet; Do, An Dang; Xiao, Changrui; Berry-Kravis, Elizabeth; Bianconi, Simona; Masvekar, Ruturaj; Bielekova, Bibiana; Solomon, Beth; Porter, Forbes D.

Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

BIOMARKER RESEARCH

IF11.5

2023-01-31

OAAI

Campbell, Kiersten; Cawley, Niamh X.; Luke, Rachel; Scott, Katelin E. J.; Johnson, Nicholas; Farhat, Nicole Y.; Alexander, Derek; Wassif, Christopher A.; Li, Wenping; Cologna, Stephanie M.; Berry-Kravis, Elizabeth; Do, An Dang; Dale, Ryan K.; Porter, Forbes D.

A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1

PROTEOMICS

IF3.9

2023-01-26

OAAI

Li, Wenping; Pergande, Melissa R. R.; Crutchfield, Christopher A. A.; Searle, Brian C. C.; Backlund, Peter S. S.; Picache, Jaqueline A. A.; Burkert, Kathryn; Yanjanin-Farhat, Nicole M. M.; Blank, Paul S. S.; Toth, Cynthia L. L.; Wassif, Christopher A. A.; Porter, Forbes D. D.; Cologna, Stephanie M. M.

Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease

JCI INSIGHT

IF6.1

2022-12-08

OAAI

Schultz, Mark L.; Schache, Kylie J.; Azaria, Ruth D.; Kuiper, Esmee Q.; Erwood, Steven; Ivakine, Evgueni A.; Farhat, Nicole Y.; Porter, Forbes D.; Pathmasiri, Koralege C.; Cologna, Stephanie M.; Uhler, Michael D.; Lieberman, Andrew P.

Phenotypic expression of swallowing function in Niemann-Pick disease type C1

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2022-09-05

OAAI

Solomon, Beth I.; Munoz, Andrea M.; Sinaii, Ninet; Farhat, Nicole M.; Smith, Andrew C.; Bianconi, Simona; Dang Do, An; Backman, Michael C.; Machielse, Leonza; Porter, Forbes D.

研究方向