Zobrazeno 1 - 10
of 146
pro vyhledávání: '"Robert A. Ouvrier"'
Publikováno v:
Therapeutic Advances in Neurological Disorders, Vol 12 (2019)
This review is an overview of systemic conditions that can be associated with peripheral nervous system dysfunction. Children may present with neuropathic symptoms for which, unless considered, a causative systemic condition may not be recognized. Si
Externí odkaz:
https://doaj.org/article/b404f6894ba042b5a7ad3dcd77db2e10
Publikováno v:
Journal of Paediatrics and Child Health. 52:861-864
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::820706a41e4c1739e9f0129531b50d57
https://doi.org/10.1111/jpc.13286
https://doi.org/10.1111/jpc.13286
Autor:
Manoj P. Menezes, Esther M Tantsis, John A. Lawson, Robert A. Smith, Florence Riant, Deepak Gill, Robert A. Ouvrier, Christopher Troedson, Richard Webster, Sachin Gupta, Neven Maksemous, Lyn R. Griffiths
Publikováno v:
Developmental Medicine & Child Neurology. 58:639-644
Free to read at publisher Aim The alpha-1 isoform of the calcium channel gene is expressed abundantly in neuronal tissue, especially within the cerebellum. Mutations in this gene may manifest with hemiplegic migraine, spinocerebellar ataxia type 6 (S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f1bb808f3d2b5109af03d7b8c2e8bf4
https://doi.org/10.1111/dmcn.13033
https://doi.org/10.1111/dmcn.13033
Autor:
Steve Vucic, Jayne Antony, Joshua Burns, Richard Webster, Matthew C. Kiernan, Michelle A. Farrar, Robert A. Ouvrier, Manoj P. Menezes, Katherine O'Brien
Publikováno v:
Clinical Neurophysiology. 127:911-918
Objective Brown–Vialetto–Van Laere (BVVL) syndrome is a progressive motor and sensory neuronopathy secondary to mutations in SLC52A2 encoding the riboflavin transporter type 2 (RFVT2). The phenotype is characterized by early childhood onset heari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::296810c78cd2aa7e6a132a6510d3088e
https://doi.org/10.1016/j.clinph.2015.05.012
https://doi.org/10.1016/j.clinph.2015.05.012
Publikováno v:
Journal of Child Neurology. 31:338-344
The purpose of this study was to determine whether transplantation of umbilical cord blood from unrelated donors before the development of symptoms could halt the progression of early juvenile onset cases of MLD in whom the disease was diagnosed base
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::116f32f00ff529af0ab64802b99a80ca
https://doi.org/10.1177/0883073815595078
https://doi.org/10.1177/0883073815595078
Autor:
Richard D. Webster, Alison M. Kesson, Robert A. Ouvrier, Sekhar Pillai, Jayne Antony, Yael Hacohen, Christopher Troedson, Fabienne Brilot, Russell C. Dale, Esther M Tantsis, Ming K. Lim, Manoj P. Menezes, Sachin Gupta, Elizabeth H Barnes, Simone L. Ardern-Holmes, Angela Vincent, Vera Merheb, Kristina Prelog, Deepak Gill, Bethan Lang, Patrick Waters, Yann Polfrit, Nicholas W S Davies, Peter Procopis
Publikováno v:
Pediatrics. 135:e974-e984
BACKGROUND AND OBJECTIVES: Pediatric encephalitis has a wide range of etiologies, clinical presentations, and outcomes. This study seeks to classify and characterize infectious, immune-mediated/autoantibody-associated and unknown forms of encephaliti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f40c8b6bfb68c66de548a9269208040
https://doi.org/10.1542/peds.2014-2702
https://doi.org/10.1542/peds.2014-2702
Autor:
Joshua Burns, Amy D Sman, Kayla M D Cornett, Elizabeth Wojciechowski, Terri Walker, Manoj P Menezes, Melissa R Mandarakas, Kristy J Rose, Paula Bray, Hugo Sampaio, Michelle Farrar, Kathryn M Refshauge, Jacqueline Raymond, Jennifer Baldwin, Marnee J McKay, Anita Mudge, Leanne Purcell, Clare Miller, Kelly Gray, Meghan Harman, Natalie Gabrael, Robert A Ouvrier
Publikováno v:
The Lancet. Childadolescent health. 1(2)
Summary Background Exercise is potentially therapeutic for neuromuscular disorders, but a risk of harm exists due to overwork weakness. We aimed to assess the safety and efficacy of progressive resistance exercise for foot dorsiflexion weakness in ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9ab1046ff4c833ed0ea1d0bab362e36
https://pubmed.ncbi.nlm.nih.gov/29289585
https://pubmed.ncbi.nlm.nih.gov/29289585
Publikováno v:
Therapeutic Advances in Neurological Disorders, Vol 12 (2019)
Therapeutic Advances in Neurological Disorders
Therapeutic Advances in Neurological Disorders
This review is an overview of systemic conditions that can be associated with peripheral nervous system dysfunction. Children may present with neuropathic symptoms for which, unless considered, a causative systemic condition may not be recognized. Si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8c7c2c478580fcbeb8c5d8f871cb624
https://doi.org/10.1177/1756286419866367
https://doi.org/10.1177/1756286419866367
Autor:
John A. Damiano, Eileen Geraghty, Gemma L. Carvill, Heather C Mefford, Samantha J. Turner, Adiba Khan, Robert A. Ouvrier, Ingrid E. Scheffer, Meng-Han Tsai, Jay Shendure, Samuel F. Berkovic, Brian J. O'Roak, Natalia Lozovaya, Nadine Bruneau, Michael S. Hildebrand, Brigid M. Regan, Richard Webster, Simone C. Yendle, Nail Burnashev, Pierre Szepetowski, Lynette G. Sadleir, Joseph Cook
Publikováno v:
Nature genetics
Epilepsy-aphasia syndromes (EAS) are a group of rare, severe epileptic encephalopathies of unknown etiology with a characteristic electroencephalogram (EEG) pattern and developmental regression particularly affecting language. Rare pathogenic deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d841d1337319052ddbf3fcfa4fdf519
http://europepmc.org/articles/PMC3868952
http://europepmc.org/articles/PMC3868952
Autor:
Alex Magee, Stéphane Mathis, Robert A. Ouvrier, Jean Michel Vallat, Laurent Magy, Yann Péréon, Bertrand Isidor, B. Cogne, Stephan Züchner, Laurence Richard, Mathilde Nizon, Jérôme Devaux
Publikováno v:
Journal of Neuropathology and Experimental Neurology
Journal of Neuropathology and Experimental Neurology, Lippincott, Williams & Wilkins, 2016, ⟨10.1093/jnen/nlw093⟩
Journal of Neuropathology and Experimental Neurology, Lippincott, Williams & Wilkins, 2016, 〈10.1093/jnen/nlw093〉
Journal of Neuropathology and Experimental Neurology, 2016, ⟨10.1093/jnen/nlw093⟩
Journal of Neuropathology and Experimental Neurology, Lippincott, Williams & Wilkins, 2016, ⟨10.1093/jnen/nlw093⟩
Journal of Neuropathology and Experimental Neurology, Lippincott, Williams & Wilkins, 2016, 〈10.1093/jnen/nlw093〉
Journal of Neuropathology and Experimental Neurology, 2016, ⟨10.1093/jnen/nlw093⟩
International audience; Congenital hypomyelinating neuropathy is a rare neonatal syndrome responsible for hypotonia and weakness. Nerve microscopic examination shows amyelination or hypomyelination. Recently, mutations in CNTNAP1 have been described
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5be07e4b8bf048a2a8c711a695fff656
https://hal.archives-ouvertes.fr/hal-01474302
https://hal.archives-ouvertes.fr/hal-01474302
