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Neuromuscular Disorders : NMD
|
June 4, 2013
190 th ENMC international workshop: Spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1: 11-13 May 2012, Naarden, The Netherlands
W Ludo van der Pol, Beril Talim, Matthew Pitt, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
April 24, 2025
Electrodiagnostic characteristics of neuromuscular disease in paediatric intensive care
Laura Nastasi, Amjad Aldrees, Daniyal Motan, et al.
Brain : a Journal of Neurology
|
September 25, 2003
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1
Matthew Pitt, Henry Houlden, Jean Jacobs, et al.
Child Neurology Open
|
July 2, 2019
Two Cases of Guillain-Barré Syndrome Variants Presenting With Dysautonomia
Omar Abdel-Mannan, Luigi D'Argenzio, Matthew Pitt, et al.
Journal of the Peripheral Nervous System : JPNS
|
May 16, 2020
A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia
Alberto A Zambon, Matthew Pitt, Matilde Laurà, et al.
Developmental Medicine and Child Neurology
|
January 20, 2011
Congenital lower brachial plexus palsy due to cervical ribs
Archana Desurkar, Kerry Mills, Matthew Pitt, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy
Hormos Salimi Dafsari, Susan Byrne, Jean-Pierre Lin, et al.
Neuromuscular Disorders : NMD
|
June 25, 2014
Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy
Sophelia H S Chan, A Reghan Foley, Rahul Phadke, et al.
Neuromuscular Disorders : NMD
|
December 19, 2018
Electromyography and muscle biopsy in paediatric neuromuscular disorders - Evaluation of current practice and literature review
Patricia Hafner, Rahul Phadke, Adnan Manzur, et al.
Neuromuscular Disorders : NMD
|
May 11, 2015
SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder
Susan Byrne, Nomazulu Dlamini, Daniel Lumsden, et al.
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of 6
Search research articles
Search
Showing results (21-30 of 51) with videos related to
Sort By:
Page
of 6
Neuromuscular Disorders : NMD
|
June 4, 2013
190 th ENMC international workshop: Spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1: 11-13 May 2012, Naarden, The Netherlands
W Ludo van der Pol, Beril Talim, Matthew Pitt, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
April 24, 2025
Electrodiagnostic characteristics of neuromuscular disease in paediatric intensive care
Laura Nastasi, Amjad Aldrees, Daniyal Motan, et al.
Brain : a Journal of Neurology
|
September 25, 2003
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1
Matthew Pitt, Henry Houlden, Jean Jacobs, et al.
Child Neurology Open
|
July 2, 2019
Two Cases of Guillain-Barré Syndrome Variants Presenting With Dysautonomia
Omar Abdel-Mannan, Luigi D'Argenzio, Matthew Pitt, et al.
Journal of the Peripheral Nervous System : JPNS
|
May 16, 2020
A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia
Alberto A Zambon, Matthew Pitt, Matilde Laurà, et al.
Developmental Medicine and Child Neurology
|
January 20, 2011
Congenital lower brachial plexus palsy due to cervical ribs
Archana Desurkar, Kerry Mills, Matthew Pitt, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy
Hormos Salimi Dafsari, Susan Byrne, Jean-Pierre Lin, et al.
Neuromuscular Disorders : NMD
|
June 25, 2014
Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy
Sophelia H S Chan, A Reghan Foley, Rahul Phadke, et al.
Neuromuscular Disorders : NMD
|
December 19, 2018
Electromyography and muscle biopsy in paediatric neuromuscular disorders - Evaluation of current practice and literature review
Patricia Hafner, Rahul Phadke, Adnan Manzur, et al.
Neuromuscular Disorders : NMD
|
May 11, 2015
SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder
Susan Byrne, Nomazulu Dlamini, Daniel Lumsden, et al.
Page
of 6