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Mark Roberts

Showing results (151-160 of 189) with videos related to

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Neuromuscular Disorders : NMD|June 19, 2017
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domainsElizabeth Harris, Umar Burki, Chiara Marini-Bettolo, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|December 20, 2013
Neurological manifestations of influenza infection in children and adults: results of a National British Surveillance StudyAnu Goenka, Benedict D Michael, Elizabeth Ledger, et al.
Annals of Neurology|July 26, 2016
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combinationYi Shiau Ng, Catherine Feeney, Andrew M Schaefer, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 24, 2018
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathyEmer O'Connor, Jana Vandrovcova, Enrico Bugiardini, et al.
JAMA Neurology|November 25, 2014
Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28Gráinne S Gorman, Gerald Pfeffer, Helen Griffin, et al.
Neurology|November 8, 2013
Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletionsCharlotte L Alston, Andrew M Schaefer, Pravrutha Raman, et al.
BMJ Open Respiratory Research|November 2, 2019
Training opportunities in thoracic ultrasound for respiratory trainees: are current guidelines practical?Andrew E Stanton, Matthew Evison, Mark Roberts, et al.
Journal of Inherited Metabolic Disease|March 19, 2020
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literatureRahul Phadke, Carola Hedberg-Oldfors, Renata S Scalco, et al.
Journal of Neurology|February 28, 2024
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)Benedikt Schoser, Priya S Kishnani, Drago Bratkovic, et al.
Muscle & Nerve|May 9, 2025
Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPELHani Kushlaf, Jordi Díaz-Manera, Drago Bratkovic, et al.
Pageof 19

Showing results (151-160 of 189) with videos related to

Sort By:
Pageof 19
Neuromuscular Disorders : NMD|June 19, 2017
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domainsElizabeth Harris, Umar Burki, Chiara Marini-Bettolo, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|December 20, 2013
Neurological manifestations of influenza infection in children and adults: results of a National British Surveillance StudyAnu Goenka, Benedict D Michael, Elizabeth Ledger, et al.
Annals of Neurology|July 26, 2016
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combinationYi Shiau Ng, Catherine Feeney, Andrew M Schaefer, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 24, 2018
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathyEmer O'Connor, Jana Vandrovcova, Enrico Bugiardini, et al.
JAMA Neurology|November 25, 2014
Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28Gráinne S Gorman, Gerald Pfeffer, Helen Griffin, et al.
Neurology|November 8, 2013
Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletionsCharlotte L Alston, Andrew M Schaefer, Pravrutha Raman, et al.
BMJ Open Respiratory Research|November 2, 2019
Training opportunities in thoracic ultrasound for respiratory trainees: are current guidelines practical?Andrew E Stanton, Matthew Evison, Mark Roberts, et al.
Journal of Inherited Metabolic Disease|March 19, 2020
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literatureRahul Phadke, Carola Hedberg-Oldfors, Renata S Scalco, et al.
Journal of Neurology|February 28, 2024
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)Benedikt Schoser, Priya S Kishnani, Drago Bratkovic, et al.
Muscle & Nerve|May 9, 2025
Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPELHani Kushlaf, Jordi Díaz-Manera, Drago Bratkovic, et al.
Pageof 19