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Maria T Acosta

Staff Clinician - Principal Investigator

National Human Genome Research Institute

United States

Research Interests

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Articles (12)

Year:

2026

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2026

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2025

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2025

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2025

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2025

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2024

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2024

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2024

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2023

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2023

Year:

2023

Collaborators (10)

Sandrine PASSEMARD

Université Paris Cité

FRANCE

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Nour Gazzaz

Assistant Professor/ Consultant Pediatric Endocrinology and diabetes

king abdulaziz university

SAUDI ARABIA

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Mahshid Azamian

Baylor College of Medicine

UNITED STATES

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Queenie K.-G Tan

Mayo Clinic

UNITED STATES

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Mohamad Mikati

Duke University

UNITED STATES

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Sampath Rangasamy

Associate Professor -Research

Translational Genomics Research Institute

UNITED STATES

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Sharon Gorski

Affiliate Professor

The University of British Columbia

CANADA

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Stanley Nelson

Professor

David Geffen School of Medicine at UCLA

UNITED STATES

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Montserrat Ferrer

Associate lecturer

Universitat Pompeu Fabra

SPAIN

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Mariko Nakano-Okuno

Associate Professor

Hokkaido University

JAPAN

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Maria T Acosta

Research Interests

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Articles (12)

Brain aging in Type II GM1 gangliosidosis

Outcome strategies for clinical trials in Neuropaediatric rare diseases

Differential tractography: an imaging marker for tissue degeneration in neurodegenerative diseases

Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts

Editorial: Role of neuroimaging in the diagnosis and treatment of rare diseases.

Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients.

Methods for Neuroscience Drug Development: Guidance on Standardization of the Process for Defining Clinical Outcome Strategies in Clinical Trials

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.

GM1 gangliosidosis type II: Results of a 10-year prospective study.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.

Collaborators (10)

Sandrine PASSEMARD

Nour Gazzaz

Mahshid Azamian

Queenie K.-G Tan

Mohamad Mikati

Sampath Rangasamy

Sharon Gorski

Stanley Nelson

Montserrat Ferrer

Mariko Nakano-Okuno

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