Sanaz Attaripour

Neural exposome burden stratifies cognitive trajectories in a subacute-to-chronic mild TBI outpatient cohort: an exploratory dimension-reduction study

Maria T. Paulino, Kotaro Tsutsumi, Amanda Fang, Stephania Tovar Vargas et autres

Aim To translate the National Institute of Neurological Disorders and Stroke (NINDS) neural exposome framework into a clinically measurable model for 6-month cognitive trajectory after mild traumatic brain injury (mTBI) using principal component analysis (PCA).Methods Forty-four adults with mTBI (GCS 13–15; 50% …

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“It didn’t feel like anything unusual because we had already been through so much”: Disability-related research experiences of families with children enrolled in the undiagnosed diseases network

Kevin Mintz, Elisa N. Altamirano, Meghan C. Halley, Krysta S. Barton et autres

PURPOSE: In recent years, researchers have brought attention to the underrepresentation of people with disabilities in biomedical research, including genomics research. However, little is known about how disability-related experiences influence participation in rare disease research. This omission is striking because rare diseases …

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Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling

Nathalie M. Aceves, Denise G. Lanza, Paul C. Marcogliese, Di Lu et autres

PURPOSE: Heterozygous pathogenic variants in AXIN2 (HGNC: 904) cause oligodontia-colorectal cancer syndrome. We identified 5 individuals with de novo heterozygous variants [NM_004655.4:c.196G>A p.(Glu66Lys), c.197A>G p.(Glu66Gly), and c.199G>A p.(Gly67Arg)] in AXIN2. Common phenotypes among these individuals included ectodermal dysplasia, global developmental delay, microcephaly, …

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Machine Learning Analysis of Archimedes Spirals in Movement Disorders and Current Underuse in Ataxia Syndromes: A Systematic Review (P5-16.006)

Jessica Martin, Sanaz Attaripour, Kotaro Tsutsumi

To evaluate the diagnostic utility of machine learning (ML) applied to Archimedes spirals for movement disorders and to identify its underuse in ataxia syndromes.

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Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association

Laura Keehan, Hitomi Ono Minagi, Mohamad Hadhud, Jonathan Rips et autres

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An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Isabelle Cooperstein, Shruti Marwaha, Alistair Ward, Shilpa N. Kobren et autres

BACKGROUND: Exome sequencing (ES) and genome sequencing (GS) are increasingly used as standard genetic tests to identify diagnostic variants in rare disease cases. However, prioritizing these variants to reduce the time and burden of manual interpretation by clinical teams remains a significant …

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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Shilpa N. Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia et autres

Genomics for rare disease diagnosis has advanced at a rapid pace due to our ability to perform in-depth analyses on individual patients with ultra-rare diseases. The increasing sizes of ultra-rare disease cohorts internationally newly enables cohort-wide analyses for new discoveries, but well-calibrated …

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Comparison of Machine Learning Architectures for Acoustic Analysis of Vowel Articulation Among Parkinson’s Disease Patients (P3-5.008)

Kotaro Tsutsumi, Peter Chang, Sanaz Attaripour

Our aim was to develop and compare machine learning (ML) algorithms for identification of Parkinson’s disease (PD) patients via acoustic analysis of vowel articulation.

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Patterns of brain activity in choice or instructed go and no-go tasks

Sanaz Attaripour, Patrick McGurrin, Felipe Vial, Mark Hallett

The goal of this study was to investigate the decision making process for choosing what movements to make. We used electroencephalography (EEG) to investigate patterns of the contingent negative variation (CNV) associated with free-choice decisions to move or abstain, comparing them to …

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Clinical neurophysiology in the treatment of movement disorders: IFCN handbook chapter

Jean‐Pascal Lefaucheur, Elena Moro, Yuichiro Shirota, Yoshikazu Ugawa et autres

In this review, different aspects of the use of clinical neurophysiology techniques for the treatment of movement disorders are addressed. First of all, these techniques can be used to guide neuromodulation techniques or to perform therapeutic neuromodulation as such. Neuromodulation includes invasive …

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Neurocinema: Expanding a Multimodal Approach Across the Continuum of Medical Education (P7-7.004)

Shivali Baveja, Hoang-Lan Nguyen, Sanaz Attaripour, Claire Henchcliffe

The aim of this project is to explore medical student, resident physician, and faculty experiences following neurocinema showings and discussions.

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Association Between Smoking and Parkinson’s Disease Incidence (P8-3.012)

Jenny Zhu, Sanaz Attaripour

To explore the relationship between smoking prevalence and Parkinson’s Disease (PD) incidence from 1980 to 2018.

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