Zobrazeno 1 - 10
of 373
pro vyhledávání: '"Victor Dubowitz"'
Autor:
Victor Dubowitz
Publikováno v:
Neuromuscular disorders : NMD. 31(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1494ba238fc204a5063664c98763bb2b
https://pubmed.ncbi.nlm.nih.gov/34736632
https://pubmed.ncbi.nlm.nih.gov/34736632
Autor:
Raffaella Willmann, Filippo Buccella, Annamaria De Luca, Miranda D. Grounds, Jenny Versnel, Elizabeth Vroom, Diana Ribeiro, Anna Ambrosini, Grace Pavlath, John Porter, Gustavo Dziewczapolski, Victor Dubowitz, Hanns Lochmüller, Kevin Campbell, Kay Davies, Kevin A. Roth, Alejandra Clark, Emilio Clementi, Kanneboyina Nagaraju, Nathalie Goemans, Volker Straub, Andrea Klein, Annemieke Aartsma-Rus, Miranda Grounds, Maaike van Putten, Maria Fries, Maria Sheean, Jon Tinsley, Mahasweta Girgenrath
Publikováno v:
Neuromuscular Disorders. 28:185-192
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f03e416677af67eafebc76bed006212e
https://doi.org/10.1016/j.nmd.2017.11.002
https://doi.org/10.1016/j.nmd.2017.11.002
Autor:
Victor Dubowitz
Publikováno v:
Neuromuscular disorders : NMD. 29(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ce07223e167efd259c0eb2e04aeb5e9
https://pubmed.ncbi.nlm.nih.gov/31227065
https://pubmed.ncbi.nlm.nih.gov/31227065
Autor:
Sandra Donkervoort, James J. Dowling, Jocelyn Laporte, Daniel MacArthur, Carsten G. Bönnemann, Alan Beggs, Gisele Bonne, Carsten Bönnemann, James Dowling, Victor Dubowitz, Michael Goldberg, Morton Goldberg, Yann Herault, Mert Karakaya, Anne Lennox, Eduardo Malfatti, Katherine Mathews, Marina Mora, Ichizo Nishino, Emily Oates, Anne Rutkowski, Melanie Spring, Nicol Voermans, Jodi Warman, Tobias Willer, Hui Xiong, Irina Zaharieva, Edmar Zanoteli
Publikováno v:
Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2019, 29 (8), pp.644-650. ⟨10.1016/j.nmd.2019.07.002⟩
Neuromuscular Disorders, Elsevier, 2019, 29 (8), pp.644-650. ⟨10.1016/j.nmd.2019.07.002⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c21f53042cb83390595f7d44caf59d19
https://pubmed.ncbi.nlm.nih.gov/31400830
https://pubmed.ncbi.nlm.nih.gov/31400830
For more than 45 years, Muscle Biopsy: A Practical Approach has offered, comprehensive, clinically-focused coverage of the acquisition, interpretation, and assessment of muscle biopsies – an area often only lightly covered in pathology texts. Takin
Autor:
Victor Dubowitz
Publikováno v:
Neuromuscular Disorders. 29:413-414
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98d8cfa6876ac024f40dd3717d9ff70c
https://doi.org/10.1016/j.nmd.2019.06.008
https://doi.org/10.1016/j.nmd.2019.06.008
Autor:
Victor Dubowitz
Publikováno v:
Neuromuscular disorders : NMD. 27(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7aea36a6195443c1b63ece2b12dfdef
https://pubmed.ncbi.nlm.nih.gov/28087000
https://pubmed.ncbi.nlm.nih.gov/28087000
Publikováno v:
Neuromuscular Disorders. 25:S146-S148
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9382980138db36c798f7be5e8a0f7a7
https://doi.org/10.1016/j.nmd.2015.08.003
https://doi.org/10.1016/j.nmd.2015.08.003
Autor:
S Patel, Victor Dubowitz, Francesco Muntoni, Kay E. Davies, L Campbell, Judith Melki, Lydia Burglen, Matthew G. Dunckley, Kevin Talbot, L. Skordis
We report two novel mutations in three cases of spinal muscular atrophy (SMA), including two distant cousins who followed an unexpectedly severe course. Diagnosis was confirmed by reduced SMN protein and full-length SMN mRNA levels. Sequencing of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dec4c4e756a6d0133cfd6525edfc81d4
https://ora.ox.ac.uk/objects/uuid:71648c00-963e-4c5b-b64e-0517414adc16
https://ora.ox.ac.uk/objects/uuid:71648c00-963e-4c5b-b64e-0517414adc16
Autor:
David A. Stumpf, N. Paul Rosman, Milivoj Velickovic Perat, Philippe Evrard, Shlomi Constantini, Victor Dubowitz
Publikováno v:
Journal of Child Neurology. 25:637-643
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85e864a3c045d8c4bff122358d2783d9
https://doi.org/10.1177/0883073809357470
https://doi.org/10.1177/0883073809357470