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Forbes D Porter

21PUBLICATIONS

53CO-AUTHORS

Neurology and neuromuscular diseasesRace/ethnicity and crimeCellular nervous systemAboriginal and Torres Strait Islander child health and wellbeingCentral nervous system

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Publications (21)

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|Apr 26, 2026

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

|Mar 30, 2026

Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 mice.

Avani V Mylvara, Alana L Gibson, Tansy Gu

|Feb 26, 2026

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.

Khushboo Singhal, Matthew T Menold, Niamh X Cawley

|Feb 24, 2026

Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect.

John Perreault, F Dennison Porter, Małgorzata J M Nowaczyk

|Feb 23, 2026

Generation and characterization of human iPSC-derived <i>NPC1</i> <sup><i>I1061T/I10161T</i></sup> i<sup>3</sup>Neurons as a model for NPC1 disease.

Shikha Salhotra, Niamh X Cawley, Christian White

|Dec 04, 2025

Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome.

Garrett R Bowman, Samar N Rahhal, Forbes D Porter

Pageof 4

Frequent Collaborators

6 joint publications

Niamh X Cawley

5 joint publications

Cristin D Davidson

4 joint publications

Christopher A Wassif

3 joint publications

Charles P Venditti

3 joint publications

Derek Alexander

3 joint publications

Avani V Mylvara

3 joint publications

William J Pavan

2 joint publications

Joan E Bailey-Wilson

2 joint publications

Alana L Gibson

2 joint publications

Elaine Tierney

Frequent Collaborators

6 joint publications

Niamh X Cawley

5 joint publications

Cristin D Davidson

4 joint publications

Christopher A Wassif

3 joint publications

Charles P Venditti

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