Publications by authors named "Cynthia Tifft"

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Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program.
Dee Adedipe, Audrey Thurm, Lisa Joseph, Maria T Acosta, Ellen F Macnamara, Cynthia J Tifft

Am J Med Genet B Neuropsychiatr Genet· December 2025

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BK channel activity in skin fibroblasts from patients with neurological disorder.
Ria L Dinsdale, Thomas R Middendorf, Deborah Disilvestre, David Adams, William Gahl, Cynthia J Tifft

Channels (Austin)· December 2025

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Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trials.
Cynthia J Tifft, Isabela Batsu, Roberto Giugliani, Harmonie Goyeau, Andreas Hahn

Genet Med· October 2025

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Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.
Florian Eichler, Oguz I Cataltepe, Rrita Daci, Ajit S Puri, Toloo Taghian, Cynthia J Tifft

Nat Med· September 2025

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CNS-targeted base editing of the major late-onset Tay-Sachs mutation alleviates disease in mice.
Maria L Allende, Mari Kono, Y Terry Lee, Samantha M Olmsted, Vienna Huso, Cynthia J Tifft

J Clin Invest· August 2025

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Diffusion tensor imaging in Chediak Higashi Disease.
Connor J Lewis, Selby I Chipman, Cynthia J Tifft, Camilo Toro, William A Gahl

medRxiv· August 2025

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Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases.
Connor J Lewis, Leila Shirvan, Jean M Johnston, Catherine Groden, John Yang, Cynthia J Tifft

medRxiv· August 2025

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AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial.
Connor J Lewis, Precilla D'Souza, Jean M Johnston, Maria T Acosta, Cristan Farmer, Cynthia J Tifft

medRxiv· July 2025

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Domain specific phenotypic expansion associated with variants in .
Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, Paulina Bahena-Carbajal, Jonathan A Bernstein, Cynthia Tifft

medRxiv· June 2025

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RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.
Sarah Silverstein, Thomas Cassini, Jiayu Fu, Barbara Pusey, Ellen Macnamara, Cynthia J Tifft

Mol Genet Metab· May 2025

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Corrigendum to "Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients" [Molecular Genetics and Metabolism 2025 Mar;144(3):109025].
Josephine Kolstad, Christopher Zoppo, Jean M Johnston, Precilla D'Souza, Anna Luisa Kühn, Cynthia J Tifft

Mol Genet Metab· May 2025

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Differential tractography: an imaging marker for tissue degeneration in neurodegenerative diseases.
Connor J Lewis, Zeynep Vardar, Anna Luisa Kühn, Jean M Johnston, Precilla D'Souza, Cynthia J Tifft

Brain Commun· May 2025

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A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis.
Connor J Lewis, Jean M Johnston, Precilla D'Souza, Josephine Kolstad, Christopher Zoppo, Cynthia J Tifft

NeuroSci· April 2025

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Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay-Sachs and Sandhoff diseases.
Connor J Lewis, Selby I Chipman, Jean M Johnston, Maria T Acosta, Camilo Toro, Cynthia J Tifft

J Neurol· April 2025

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Deep Learning Cerebellar Magnetic Resonance Imaging Segmentation in Late-Onset GM2 Gangliosidosis: Implications for Phenotype.
Connor J Lewis, Selby I Chipman, Jean M Johnston, Maria T Acosta, Cynthia J Tifft

medRxiv· April 2025

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Brain Age Prediction in Type II GM1 Gangliosidosis.
Connor J Lewis, Selby I Chipman, Precilla D'Souza, Jean M Johnston, Muhammad H Yousef, Cynthia J Tifft

medRxiv· April 2025

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Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients.
Josephine Kolstad, Christopher Zoppo, Jean M Johnston, Precilla D'Souza, Anna Luisa Kühn, Cynthia J Tifft

Mol Genet Metab· March 2025

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Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts.
Connor J Lewis, Jean M Johnston, Silvia Zaragoza Domingo, Gilbert Vezina, Precilla D'Souza, Cynthia J Tifft

Orphanet J Rare Dis· March 2025

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Editorial: Role of neuroimaging in the diagnosis and treatment of rare diseases.
Mohammed Salman Shazeeb, Maria T Acosta, Cynthia J Tifft

Front Neuroimaging· February 2025

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A Case for Automated Segmentation of MRI Data in Milder Neurodegenerative Diseases.
Connor J Lewis, Jean M Johnston, Precilla D'Souza, Josephine Kolstad, Christopher Zoppo, Cynthia J Tifft

medRxiv· February 2025

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Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease.
Hongling Zhu, Y Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A Springer, Cynthia J Tifft

Neurobiol Dis· January 2025

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Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.
Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J Tifft, May Christine Malicdan

JIMD Rep· January 2025

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Tay-Sachs and Sandhoff Diseases: Diffusion tensor imaging and correlational fiber tractography findings differentiate late-onset GM2 Gangliosidosis.
Connor J Lewis, Selby I Chipman, Jean M Johnston, Maria T Acosta, Camilo Toro, Cynthia J Tifft

medRxiv· December 2024

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Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients.
Christopher Zoppo, Josephine Kolstad, Jean Johnston, Precilla D'Souza, Anna Luisa Kühn, Cynthia J Tifft

Front Neuroimaging· September 2024

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Differential Tractography: A Biomarker for Neuronal Function in Neurodegenerative Disease.
Connor J Lewis, Zeynep Vardar, Anna Luisa Kühn, Jean M Johnston, Precilla D'Souza, Cynthia J Tifft

medRxiv· August 2024

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