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Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options

Pediatric neurology, 2016-03, Vol.56, p.59-61

2016

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Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

The Lancet (British edition), 2016-12, Vol.388 (10063), p.3017-3026

2016

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N -acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase

Neurobiology of disease, 2016-12, Vol.96, p.323-334

2016

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Revised upper limb module for spinal muscular atrophy: Development of a new module

Muscle & nerve, 2017-06, Vol.55 (6), p.869-874

2017

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GLUT1 reductions exacerbate Alzheimer's disease vasculo-neuronal dysfunction and degeneration

Nature neuroscience, 2015-04, Vol.18 (4), p.521-530

2015

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Observational study of spinal muscular atrophy type I and implications for clinical trials

Neurology, 2014-08, Vol.83 (9), p.810

2014

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Independent Mobility After Early Introduction of a Power Wheelchair in Spinal Muscular Atrophy

Journal of child neurology, 2013-05, Vol.28 (5), p.576-582

2013

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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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Ambulatory function in spinal muscular atrophy: Age-related patterns of progression

PloS one, 2018-06, Vol.13 (6), p.e0199657-e0199657

2018

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The spectrum of movement disorders in Glut-1 deficiency

Movement disorders, 2010-02, Vol.25 (3), p.275-281

2010

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Longitudinal natural history of type I spinal muscular atrophy: a critical review

Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.84-84, Article 84

2020

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Phenotypic Spectrum of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)

Current neurology and neuroscience reports, 2013-04, Vol.13 (4), p.342-342, Article 342

2013

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Neurofilament as a potential biomarker for spinal muscular atrophy

Annals of clinical and translational neurology, 2019-05, Vol.6 (5), p.932-944

2019

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Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein

Nature communications, 2017-01, Vol.8 (1), p.14152-14152, Article 14152

2017

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Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes

Epilepsia (Copenhagen), 2012-09, Vol.53 (9), p.1503-1510

2012

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Long-Term Clinical Course of Glut1 Deficiency Syndrome

Journal of child neurology, 2015-02, Vol.30 (2), p.160-169

2015

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Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study

European journal of neurology, 2024-08, Vol.31 (8), p.e16309-n/a

2024

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Seizure Characterization and Electroencephalographic Features in Glut‐1 Deficiency Syndrome

Epilepsia (Copenhagen), 2003-05, Vol.44 (5), p.701-707

2003

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Therapeutic strategies for glucose transporter 1 deficiency syndrome

Annals of clinical and translational neurology, 2019-09, Vol.6 (9), p.1923-1932

2019

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Glut-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects

Annals of neurology, 2005-01, Vol.57 (1), p.111-118

2005

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Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment

The Journal of pediatrics, 2016-04, Vol.171, p.220-226

2016

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Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study

Frontiers in neurology, 2024-07, Vol.15, p.1419791

2024

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Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

N -acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase

Revised upper limb module for spinal muscular atrophy: Development of a new module

GLUT1 reductions exacerbate Alzheimer's disease vasculo-neuronal dysfunction and degeneration

Observational study of spinal muscular atrophy type I and implications for clinical trials

Independent Mobility After Early Introduction of a Power Wheelchair in Spinal Muscular Atrophy

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

Ambulatory function in spinal muscular atrophy: Age-related patterns of progression

The spectrum of movement disorders in Glut-1 deficiency

Longitudinal natural history of type I spinal muscular atrophy: a critical review

Phenotypic Spectrum of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Neurofilament as a potential biomarker for spinal muscular atrophy

Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein

Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes

Long-Term Clinical Course of Glut1 Deficiency Syndrome

Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study

Seizure Characterization and Electroencephalographic Features in Glut‐1 Deficiency Syndrome

Therapeutic strategies for glucose transporter 1 deficiency syndrome

Glut-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects

Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment

Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study

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

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