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Grace McMacken

Showing results (11-20 of 16) with videos related to

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Journal of Neurology|May 28, 2017
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophySandra Moreira, Libby Wood, Debbie Smith, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 3, 2026
Frequent co-occurrence of AChR-positive myasthenia gravis in facioscapulohumeral muscular dystrophy suggests a novel disease associationGrace McMacken, Mohammad Ashraghi, Lucas Keyes, et al.
European Journal of Human Genetics : EJHG|September 19, 2019
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variantSunitha Balaraju, Ana Töpf, Grace McMacken, 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.
American Journal of Human Genetics|August 30, 2016
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic ApneaStéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, et al.
Journal of Neuromuscular Diseases|November 11, 2017
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global DatabaseZaïda Koeks, Catherine L Bladen, David Salgado, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Journal of Neurology|May 28, 2017
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophySandra Moreira, Libby Wood, Debbie Smith, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 3, 2026
Frequent co-occurrence of AChR-positive myasthenia gravis in facioscapulohumeral muscular dystrophy suggests a novel disease associationGrace McMacken, Mohammad Ashraghi, Lucas Keyes, et al.
European Journal of Human Genetics : EJHG|September 19, 2019
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variantSunitha Balaraju, Ana Töpf, Grace McMacken, 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.
American Journal of Human Genetics|August 30, 2016
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic ApneaStéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, et al.
Journal of Neuromuscular Diseases|November 11, 2017
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global DatabaseZaïda Koeks, Catherine L Bladen, David Salgado, et al.
Pageof 2