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Simranpreet Kaur

4PUBLICATIONS

27CO-AUTHORS

Neurology and neuromuscular diseasesGene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)

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Publications (4)

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|Nov 27, 2025

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

Qing Lin, Dylan Verden, John Christodoulou

|Jun 20, 2025

Biallelic <i>SIDT2</i> loss-of-function in a child with cerebellar ataxia and lysosomal dysfunction mimics impairment of <i>SIDT2</i> in mice.

Tan Nguyen, Grace Yoon, Blake R C Smith

|Jun 11, 2025

<i>CHD8</i> Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.

Elaine Zhang, Teresa Zhao, Tim Sikora

|Jul 12, 2020

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).

Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey

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Frequent Collaborators

3 joint publications

John Christodoulou

2 joint publications

Nicole J Van Bergen

2 joint publications

Carolyn Ellaway

2 joint publications

Wendy A Gold

1 joint publications

Kristen J Verhey

1 joint publications

Cameron J Nowell

1 joint publications

Breane Budaitis

1 joint publications

Yang Yue

1 joint publications

Martine Tétreault

1 joint publications

Gerarda Cappuccio

Frequent Collaborators

3 joint publications

John Christodoulou

2 joint publications

Nicole J Van Bergen

2 joint publications

Carolyn Ellaway

2 joint publications

Wendy A Gold

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