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Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

Genetics in medicine, 2018-06, Vol.20 (6), p.608-613

2018

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Lack of effect on ambulation of dalfampridine-ER (4-AP) treatment in adult SMA patients

Neuromuscular disorders : NMD, 2020-08, Vol.30 (8), p.693-700

2020

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Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder

Research in developmental disabilities, 2021-12, Vol.119, p.104110-104110, Article 104110

2021

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The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy

Neuromuscular disorders : NMD, 2014-01, Vol.24 (1), p.48-55

2014

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Measuring Disease Progression in Giant Axonal Neuropathy: Implications for Clinical Trial Design

Journal of child neurology, 2015-05, Vol.30 (6), p.741-748

2015

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Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2 -Related Neurodevelopmental Disorder

Neurology. Genetics, 2021-02, Vol.7 (1), p.e551-e551

2021

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Safety of Onasemnogene Abeparvovec for Patients With Spinal Muscular Atrophy 8.5 kg or Heavier in a Global Managed Access Program

Pediatric neurology, 2022-07, Vol.132, p.27-32

2022

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Patient and Caregiver Outcomes After Onasemnogene Abeparvovec Treatment: Findings from the Cure SMA 2021 Membership Survey

Advances in therapy, 2023-12, Vol.40 (12), p.5315-5337

2023

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How can informal science learning centers advance climate resilience partnerships? Lessons from two coastal communities

International journal of science education. Part B. Communication and public engagement, 2023-10, p.1-21

2023

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Nusinersen for Spinal Muscular Atrophy in the United States: Findings From a Retrospective Claims Database Analysis

Advances in therapy, 2021-12, Vol.38 (12), p.5809-5828

2021

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Correction to: A Prospective, Longitudinal Study of Caregiver-Reported Adaptive Skills and Function of Individuals with HNRNPH2-related Neurodevelopmental Disorder

Advances in neurodevelopmental disorders, 2024-06

2024

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Health Care Resource Utilization and Costs for Patients with Spinal Muscular Atrophy: Findings from a Retrospective US Claims Database Analysis

Advances in therapy, 2023-10, Vol.40 (10), p.4589-4605

2023

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Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial

Neuromuscular disorders : NMD, 2023-08, Vol.33 (8), p.670-676

2023

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A Prospective, Longitudinal Study of Caregiver-Reported Adaptive Skills and Function of Individuals with HNRNPH2-related Neurodevelopmental Disorder

Advances in neurodevelopmental disorders, 2023-08

2023

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Expanding high school youth's perceptions of environmental careers and resilience development through conservation education

Applied environmental education and communication, 2021-10, Vol.20 (4), p.376-392

2021

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Exploring the Relationship between Quantitative Reasoning Skills and News Habits

Numeracy : advancing education in quantitative literacy, 2023-01, Vol.16 (1)

2023

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Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment1

Journal of neuromuscular diseases, 2023-07, Vol.10 (4), p.531-540

2023

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Measuring Disease Progression in Giant Axonal Neuropathy

Journal of child neurology, 2015-05, Vol.30 (6), p.741-748

2015

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Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment

Journal of neuromuscular diseases, 2023-01, Vol.10 (4), p.531-540

2023

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Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry

Journal of neuromuscular diseases, 2024-01, Vol.11 (2), p.425-442

2024

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Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment

Journal of neuromuscular diseases, 2023-09, Vol.10 (5), p.985-986

2023

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Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation?

Journal of child neurology, 2013-11, Vol.28 (11), p.1517-1520

2013

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Microglia Play an Active Role in Obesity-Associated Cognitive Decline

The Journal of neuroscience, 2018-10, Vol.38 (41), p.8889-8904

2018

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Transcriptome of the Southern Muriqui Brachyteles arachnoides (Primates:Platyrrhini), a Critically Endangered New World Monkey: Evidence of Adaptive Evolution

Frontiers in genetics, 2020-07, Vol.11, p.831-831

2020

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Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

Lack of effect on ambulation of dalfampridine-ER (4-AP) treatment in adult SMA patients

Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder

Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy

The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy

Measuring Disease Progression in Giant Axonal Neuropathy: Implications for Clinical Trial Design

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2 -Related Neurodevelopmental Disorder

Safety of Onasemnogene Abeparvovec for Patients With Spinal Muscular Atrophy 8.5 kg or Heavier in a Global Managed Access Program

Patient and Caregiver Outcomes After Onasemnogene Abeparvovec Treatment: Findings from the Cure SMA 2021 Membership Survey

How can informal science learning centers advance climate resilience partnerships? Lessons from two coastal communities

Nusinersen for Spinal Muscular Atrophy in the United States: Findings From a Retrospective Claims Database Analysis

Correction to: A Prospective, Longitudinal Study of Caregiver-Reported Adaptive Skills and Function of Individuals with HNRNPH2-related Neurodevelopmental Disorder

Health Care Resource Utilization and Costs for Patients with Spinal Muscular Atrophy: Findings from a Retrospective US Claims Database Analysis

Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial

A Prospective, Longitudinal Study of Caregiver-Reported Adaptive Skills and Function of Individuals with HNRNPH2-related Neurodevelopmental Disorder

Expanding high school youth's perceptions of environmental careers and resilience development through conservation education

Exploring the Relationship between Quantitative Reasoning Skills and News Habits

Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment1

Measuring Disease Progression in Giant Axonal Neuropathy

Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment

Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry

Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment

Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation?

Microglia Play an Active Role in Obesity-Associated Cognitive Decline

Transcriptome of the Southern Muriqui Brachyteles arachnoides (Primates:Platyrrhini), a Critically Endangered New World Monkey: Evidence of Adaptive Evolution

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