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A Reghan Foley

Showing results (81-90 of 114) with videos related to

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EMBO Molecular Medicine|November 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsySandra Donkervoort, Niklas Krause, Mykola Dergai, et al.
American Journal of Human Genetics|May 5, 2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor NeuronopathyDavid T Burns, Sandra Donkervoort, Juliane S Müller, et al.
Annals of Neurology|May 14, 2020
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency SyndromeA Reghan Foley, Yaqun Zou, James E Dunford, et al.
The New England Journal of Medicine|March 20, 2024
Intrathecal Gene Therapy for Giant Axonal NeuropathyDiana X Bharucha-Goebel, Joshua J Todd, Dimah Saade, et al.
Neurology|January 14, 2021
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related DystrophiesDaniel Natera-de Benito, A Reghan Foley, Cristina Domínguez-González, et al.
American Journal of Medical Genetics. Part A|August 11, 2020
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndromeSandra Donkervoort, Payam Mohassel, Lucia Laugwitz, et al.
Neurology|October 19, 2012
Prospective cohort study of spinal muscular atrophy types 2 and 3Petra Kaufmann, Michael P McDermott, Basil T Darras, et al.
Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.
Neuromuscular Disorders : NMD|October 14, 2014
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophiesKatherine G Meilleur, Minal S Jain, Linda S Hynan, et al.
JCI Insight|March 22, 2019
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapiesVéronique Bolduc, A Reghan Foley, Herimela Solomon-Degefa, et al.
Pageof 12

Showing results (81-90 of 114) with videos related to

Sort By:
Pageof 12
EMBO Molecular Medicine|November 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsySandra Donkervoort, Niklas Krause, Mykola Dergai, et al.
American Journal of Human Genetics|May 5, 2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor NeuronopathyDavid T Burns, Sandra Donkervoort, Juliane S Müller, et al.
Annals of Neurology|May 14, 2020
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency SyndromeA Reghan Foley, Yaqun Zou, James E Dunford, et al.
The New England Journal of Medicine|March 20, 2024
Intrathecal Gene Therapy for Giant Axonal NeuropathyDiana X Bharucha-Goebel, Joshua J Todd, Dimah Saade, et al.
Neurology|January 14, 2021
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related DystrophiesDaniel Natera-de Benito, A Reghan Foley, Cristina Domínguez-González, et al.
American Journal of Medical Genetics. Part A|August 11, 2020
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndromeSandra Donkervoort, Payam Mohassel, Lucia Laugwitz, et al.
Neurology|October 19, 2012
Prospective cohort study of spinal muscular atrophy types 2 and 3Petra Kaufmann, Michael P McDermott, Basil T Darras, et al.
Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.
Neuromuscular Disorders : NMD|October 14, 2014
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophiesKatherine G Meilleur, Minal S Jain, Linda S Hynan, et al.
JCI Insight|March 22, 2019
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapiesVéronique Bolduc, A Reghan Foley, Herimela Solomon-Degefa, et al.
Pageof 12