Cynthia J Tifft
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Explore the profile of Cynthia J Tifft including associated specialties, affiliations and a list of published articles.
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99
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2870
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Recent Articles
1.
Lewis C, Johnston J, Zaragoza Domingo S, Vezina G, DSouza P, Gahl W, et al.
Orphanet J Rare Dis
. 2025 Mar;
20(1):125.
PMID: 40087722
Background: Clinical trials for rare diseases pose unique challenges warranting alternative approaches in demonstrating treatment efficacy. Such trials face challenges including small patient populations, variable onset of symptoms and rate...
2.
Lewis C, Johnston J, DSouza P, Kolstad J, Zoppo C, Vardar Z, et al.
medRxiv
. 2025 Mar;
PMID: 40034761
Background: Volumetric analysis and segmentation of magnetic resonance imaging (MRI) data is an important tool for evaluating neurological disease progression and neurodevelopment. Fully automated segmentation pipelines offer faster and more...
3.
Shazeeb M, Acosta M, Tifft C
Front Neuroimaging
. 2025 Feb;
4:1566484.
PMID: 40017823
No abstract available.
4.
Kolstad J, Zoppo C, Johnston J, DSouza P, Kuhn A, Vardar Z, et al.
Mol Genet Metab
. 2025 Jan;
144(3):109025.
PMID: 39874851
Objective: GM1 gangliosidosis is a rare lysosomal storage disorder characterized by the accumulation of GM1 gangliosides in neuronal cells, resulting in severe neurodegeneration. Currently, limited data exists on the brain...
5.
Lewis C, Chipman S, Johnston J, Acosta M, Toro C, Tifft C
medRxiv
. 2025 Jan;
PMID: 39802759
GM2 gangliosidosis is lysosomal storage disorder caused by deficiency of the heterodimeric enzyme β-hexosaminidase A. Tay-Sachs disease is caused by variants in encoding the α-subunit and Sandhoff disease is caused...
6.
Cassini T, Silverstein S, Behan M, Tifft C, Malicdan M, Adams D, et al.
JIMD Rep
. 2024 Dec;
66(1):e12459.
PMID: 39723123
Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and...
7.
Zhu H, Lee Y, Byrnes C, Angina J, Springer D, Tuymetova G, et al.
Neurobiol Dis
. 2024 Dec;
204():106760.
PMID: 39647513
Sandhoff disease, a lysosomal storage disorder, is caused by pathogenic variants in the HEXB gene, resulting in the loss of β-hexosaminidase activity and accumulation of sphingolipids including GM2 ganglioside. This...
8.
Lewis C, Vardar Z, Kuhn A, Johnston J, DSouza P, Gahl W, et al.
medRxiv
. 2024 Oct;
PMID: 39371116
GM1 gangliosidosis is an ultra-rare inherited neurodegenerative lysosomal storage disorder caused by biallelic mutations in the gene. GM1 is uniformly fatal and has no approved therapies, although clinical trials investigating...
9.
Zoppo C, Kolstad J, Johnston J, DSouza P, Kuhn A, Vardar Z, et al.
Front Neuroimaging
. 2024 Oct;
3:1410848.
PMID: 39350771
Purpose: GM1-gangliosidosis (GM1) leads to extensive neurodegenerative changes and atrophy that precludes the use of automated MRI segmentation techniques for generating brain volumetrics. We developed a standardized segmentation protocol for...
10.
Chen Y, Dawes R, Kim H, Ljungdahl A, Stenton S, Walker S, et al.
Nature
. 2024 Jul;
632(8026):832-840.
PMID: 38991538
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in...