Neuromuscular Disorders

Công bố khoa học tiêu biểu

Sắp xếp:  
P.101 Baseline characteristics/initial safety in RESPOND: phase 4 study of nusinersen in children with SMA who previously received onasemnogene abeparvovec
Neuromuscular Disorders - Tập 32 - Trang S86 - 2022
C. Proud, J. Parsons, R. Masson, J. Brandsema, R. Finkel, K. Swoboda, E. Finanger, Y. Liu, C. Makepeace, A. Paradis, Z. Berger, J. Wagner, K. Somera-Molina
P.53 Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients
Neuromuscular Disorders - Tập 32 - Trang S62 - 2022
I. Magen, S. Aharoni, N. Yacovzada, I. Tokatly Latzer, C. Alves, L. Sagi, A. Fattal-Valevski, K. Swoboda, J. Katz, E. Bruckheimer, Y. Nevo, E. Hornstein
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
Neuromuscular Disorders - Tập 19 Số 1 - Trang 62-65 - 2009
Carlo Minetti, Marianna Ciccolella, Andrea Rossi, Alessandra Tessa, Mark Roberts, Filippo M. Santorelli
Guillain-Barré-Strohl syndrome and COVID-19: Case report and literature review
Neuromuscular Disorders - Tập 30 Số 10 - Trang 859-861 - 2020
Laura Diez-Porras, Enric Vergés, Francisco Gil, M José Vidal, Joan Massons, Adrià Arboix
P.4.5 Muscle NMR imaging in the rare E650K mutation in the DNM2 gene in a centronuclear myopathy patient
Neuromuscular Disorders - Tập 23 - Trang 761 - 2013
M. Vainzof, P. Calyjur, M.C.G. Otaduy, C.F. Almeida, A. Martins-Bach, R.Y. Carlier, J. Gurgel-Giannetti, E. Amaro, P.G. Carlier
Deficiency of mitochondrial ATP synthase of nuclear genetic origin
Neuromuscular Disorders - Tập 16 Số 12 - Trang 821-829 - 2006
Wolfgang Sperl, Pavel Ješina, J Zeman, Johannes A. Mayr, L. DeMeirleir, R. Vancoster, Andrea Pı́cková, Hana Hansı́ková, H Houst'ková, Zdeněk Krejčík, Johannes Koch, Joél Smet, Wolfgang Muss, Elisabeth Holme, J Houštěk
Mitochondrial encephalomyopathies: an update
Neuromuscular Disorders - Tập 15 Số 4 - Trang 276-286 - 2005
Salvatore DiMauro, Michio Hirano
Assessment of intramuscular lipid and metabolites of the lower leg using magnetic resonance spectroscopy in boys with Duchenne muscular dystrophy
Neuromuscular Disorders - Tập 24 - Trang 574-582 - 2014
Donovan J. Lott, Sean C. Forbes, Sunita Mathur, Sean A. Germain, Claudia R. Senesac, H. Lee Sweeney, Glenn A. Walter, Krista Vandenborne
X-linked myotubular myopathy
Neuromuscular Disorders - Tập 31 - Trang 1004-1012 - 2021
Michael W. Lawlor, James J. Dowling
MRI/MRS evaluation of a female carrier of Duchenne muscular dystrophy
Neuromuscular Disorders - Tập 22 - Trang S111-S121 - 2012
Sean C. Forbes, Donovan J. Lott, Richard S. Finkel, Claudia Senesac, Barry J. Byrne, H. Lee Sweeney, Glenn A. Walter, Krista Vandenborne
Tổng số: 2,504   
  • 1
  • 2
  • 3
  • 4
  • 5
  • 6
  • 251