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Journal of Pediatric Ophthalmology and Strabismus
|
July 21, 2023
Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease
Radhika S Gholap, Diana X Bharucha-Goebel, Daniel A Shats, et al.
Neurology
|
March 15, 2015
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype
Diana X Bharucha-Goebel, Erin Neil, Sandra Donkervoort, et al.
Journal of Child Neurology
|
April 2, 2016
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement
Leslie Hotchkiss, Sandra Donkervoort, Meganne E Leach, et al.
Muscle & Nerve
|
August 29, 2025
T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy (GAN)
Diane Armao, Thomas W Bouldin, Diana X Bharucha-Goebel, et al.
Journal of Neuromuscular Diseases
|
November 10, 2025
Onasemnogene abeparvovec gene therapy for treatment of patients with spinal muscular atrophy: Updated real-world practical considerations
Crystal M Proud, Elizabeth A Kichula, Susan E Matesanz, et al.
Neurology. Clinical Practice
|
October 14, 2024
Spinal Muscular Atrophy Update in Best Practices: Recommendations for Treatment Considerations
Mary K Schroth, Jennifer Deans, Diana X Bharucha Goebel, et al.
Annals of Neurology
|
December 29, 2017
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy
Xilma R Ortiz-González, Jesus A Tintos-Hernández, Kierstin Keller, et al.
Brain : a Journal of Neurology
|
June 11, 2021
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort
Diana X Bharucha-Goebel, Gina Norato, Dimah Saade, et al.
Muscle & Nerve
|
May 4, 2022
Comparison of strength testing modalities in dysferlinopathy
Natalie F Reash, Meredith K James, Lindsay N Alfano, et al.
Journal of Cachexia, Sarcopenia and Muscle
|
August 15, 2025
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2
Zoe White, Laura Rufibach, Heather Gordish Dressman, et al.
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Search research articles
Search
Showing results (1-10 of 27) with videos related to
Sort By:
Page
of 3
Journal of Pediatric Ophthalmology and Strabismus
|
July 21, 2023
Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease
Radhika S Gholap, Diana X Bharucha-Goebel, Daniel A Shats, et al.
Neurology
|
March 15, 2015
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype
Diana X Bharucha-Goebel, Erin Neil, Sandra Donkervoort, et al.
Journal of Child Neurology
|
April 2, 2016
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement
Leslie Hotchkiss, Sandra Donkervoort, Meganne E Leach, et al.
Muscle & Nerve
|
August 29, 2025
T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy (GAN)
Diane Armao, Thomas W Bouldin, Diana X Bharucha-Goebel, et al.
Journal of Neuromuscular Diseases
|
November 10, 2025
Onasemnogene abeparvovec gene therapy for treatment of patients with spinal muscular atrophy: Updated real-world practical considerations
Crystal M Proud, Elizabeth A Kichula, Susan E Matesanz, et al.
Neurology. Clinical Practice
|
October 14, 2024
Spinal Muscular Atrophy Update in Best Practices: Recommendations for Treatment Considerations
Mary K Schroth, Jennifer Deans, Diana X Bharucha Goebel, et al.
Annals of Neurology
|
December 29, 2017
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy
Xilma R Ortiz-González, Jesus A Tintos-Hernández, Kierstin Keller, et al.
Brain : a Journal of Neurology
|
June 11, 2021
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort
Diana X Bharucha-Goebel, Gina Norato, Dimah Saade, et al.
Muscle & Nerve
|
May 4, 2022
Comparison of strength testing modalities in dysferlinopathy
Natalie F Reash, Meredith K James, Lindsay N Alfano, et al.
Journal of Cachexia, Sarcopenia and Muscle
|
August 15, 2025
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2
Zoe White, Laura Rufibach, Heather Gordish Dressman, et al.
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