Publications by authors named "Forbes D Porter"

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Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale.
Cristan Farmer, Monica Lewis, Nicole Farhat, Kendall P Robbins, Lisa Joseph, Forbes D Porter

J Child Neurol· January 2026

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Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1.
Forbes D Porter, Derek M Alexander, Orsolya K Albert, Kendall P Robbins, Desiree A Labor

Mol Genet Metab· December 2025

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Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome.
Garrett R Bowman, Samar N Rahhal, Forbes D Porter

Am J Med Genet A· December 2025

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Cholesterol Depletion with U18666A and Methyl-β Cyclodextrin Increased Small Molecule Permeability Across Brain Microvascular Endothelial Cells.
Bilal Moiz, Viviana Alpizar Vargas, Ken D Brandon, Gurneet Sangha, Callie Weber, Forbes D Porter

Ann Biomed Eng· November 2025

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Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
Judith S Miller, Cristan Farmer, Susan Blair, Simona Bianconi, Natacha Akshoomoff, Forbes D Porter

Pediatr Neurol· October 2025

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Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment.
Krista Casazza, Stephanie M Cologna, Elizabeth Berry-Kravis, Jeanine Jarnes, Forbes D Porter

J Inherit Metab Dis· September 2025

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Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1.
Niamh X Cawley, Ruyu Zhou, Avani Mylvara, Cameron J Padilla, Derek Alexander, Forbes D Porter

Genet Med Open· September 2025

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Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome.
Wenping Li, Melissa R Pergande, Fidel Serna-Perez, Vinayak Patel, Christopher A Crutchfield, Forbes D Porter

J Proteome Res· August 2025

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Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.
Eugen Mengel, Marc C Patterson, Rosalia M Da Riol, Mireia Del Toro, Federica Deodato, Forbes D Porter

Mol Genet Metab Rep· June 2025

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Cerebrospinal Fluid and Serum Neuron-Specific Enolase in Niemann-Pick Disease Type C1.
Cameron J Padilla, Derek M Alexander, Desiree A Labor, Orsolya K Albert, Kendall P Robbins, Forbes D Porter

Am J Med Genet A· May 2025

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Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1.
Avani V Mylvara, Cristin D Davidson, Derek Alexander, Charles P Venditti, Forbes D Porter

Hum Gene Ther· April 2025

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Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions.
Niamh X Cawley, Ruyu Zhou, Nicole M Farhat, James Iben, Derek M Alexander, Forbes D Porter

J Inherit Metab Dis· March 2025

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Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.
Aishwarya Selvaraman, Samar Rahhal, Simona Bianconi, Tristan Furnary, Forbes D Porter

Am J Med Genet A· February 2025

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Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder.
Marya S Sabir, Lynne Wolfe, David R Adams, Carla Ciccone, Forbes D Porter

Rare· January 2025

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Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome.
Rachel A Luke, Niamh X Cawley, Samar Rahhal, Aishwarya Selvaraman, Audrey Thurm, Forbes D Porter

Mol Genet Metab· October 2024

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Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1.
Sonali Mishra, Pamela Kell, David Scherrer, Dennis J Dietzen, Charles H Vite, Forbes D Porter

J Lipid Res· August 2024

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Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.
Beth I Solomon, Andrea M Muñoz, Ninet Sinaii, Hibaaq Mohamed, Nicole M Farhat, Forbes D Porter

Orphanet J Rare Dis· June 2024

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Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice.
Avani V Mylvara, Alana L Gibson, Tansy Gu, Cristin D Davidson, Art A Incao, Forbes D Porter

bioRxiv· June 2024

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Sterol O-Acyltransferase 1 (): A Genetic Modifier of Niemann-Pick Disease, Type C1.
Nicole Y Farhat, Derek Alexander, Kyli McKee, James Iben, Jorge L Rodriguez-Gil, Forbes D Porter

Int J Mol Sci· April 2024

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Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Myriam Abdennadher, Sara K Inati, Samar Rahhal, Omar Khan, Luca Bartolini, Forbes D Porter

Am J Med Genet A· February 2024

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Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model.
Kristin Gabor, Emily V Mesev, Jennifer Madenspacher, Julie Meacham, Prashant Rai, Forbes D Porter

J Clin Invest· January 2024

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Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A Wassif, Niamh X Cawley, Forbes D Porter

Mol Genet Metab Rep· December 2023

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Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A Wassif, Niamh X Cawley, Forbes D Porter

Mol Genet Metab Rep· December 2023

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Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
Niamh X Cawley, Spencer Giddens, Nicole M Farhat, Rachel A Luke, Katelin E J Scott, Forbes D Porter

Mol Genet Metab· November 2023

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Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Erica L Lyons, Daniel Watson, Mohammad S Alodadi, Sharie J Haugabook, Gregory J Tawa, Forbes D Porter

BMC Genomics· August 2023

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