Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1). J Neuroscience 2009; 29: 11761-11771

被引:0
|
作者
Topaloglu, Haluk [1 ]
机构
[1] Hacettepe Childrens Hosp Med Ctr, Dept Child Neurol, TR-06100 Ankara, Turkey
关键词
D O I
10.1016/j.nmd.2010.01.002
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:214 / 214
页数:1
相关论文
共 50 条
  • [21] Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature
    Lingappa, Lokesh
    Shah, Nikit
    Motepalli, Ananth Sagar
    Shaik, Farhan
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2016, 19 (03) : 395 - 398
  • [22] Novel IGHMBP2 mutations in spinal muscular atrophy with respiratory distress (SMARD1).
    Viollet, L
    Zarhrate, M
    Burlet, P
    Lefebvre, S
    Munnich, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 286 - 286
  • [23] Spinal muscular atrophy with respiratory distress (SMARD1): clinicopathological aspects of 3 new cases
    Goemans, NMLA
    Matthijs, G
    Hubner, C
    Grohmann, K
    Varon, R
    Sciot, R
    Naulaers, G
    van Hole, C
    NEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 736 - 736
  • [24] Extended phenotype of SMA with respiratory distress type 1 (SMARD1)
    Hübner, C
    Varon, R
    Grohmann, K
    Schuelke, M
    Muntoni, F
    Rudnik-Schöneborn, S
    Zerres, K
    Ouvrier, R
    Stephani, U
    Bertini, E
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 : S86 - S86
  • [25] Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants
    Pekuz, Serdar
    Guzin, Yigithan
    Saritas, Serdar
    Kirbiyik, Ozgur
    Unalp, Aycan
    Yilmaz, Unsal
    TURKISH JOURNAL OF PEDIATRICS, 2022, 64 (02) : 364 - 374
  • [26] The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins
    Lesniak, Alicja
    Glinska, Marta
    Patalan, Michal
    Ostrowska, Iwona
    Swirska-Sobolewska, Monika
    Gizewska-Kacprzak, Kaja
    Kotkowiak, Agata
    Lesniak, Anna
    Walczak, Mieczyslaw
    Smigiel, Robert
    Gizewska, Maria
    GENES, 2024, 15 (08)
  • [27] Survey of clinicians' experience and attitudes regarding spinal muscular atrophy with respiratory distress syndrome type 1 (SMARD1) in the UK
    Shah, S.
    Jerrom, T.
    Fraser, J.
    Majumdar, A.
    NEUROMUSCULAR DISORDERS, 2015, 25 : S226 - S226
  • [28] Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): An atypical phenotype and review of the literature
    Messina, Maria F.
    Messina, Sonia
    Gaeta, Michele
    Rodolico, Carmelo
    Damiano, Anna M. Salpietro
    Lombardo, Fortunato
    Crisafulli, Giuseppe
    De Luca, Filippo
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2012, 16 (01) : 90 - 94
  • [29] Phenotype and genotype of spinal muscular atrophy with respiratory distress type 1
    Grohmann, K
    Stolz, P
    Varon, R
    Schülke, M
    Stoltenburg, G
    Bertini, E
    Bushby, K
    Lochmüller, H
    Muntoni, F
    Ouvrier, R
    Zerres, K
    Rudnik-Schöneborn, S
    Hübner, C
    NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 661 - 661
  • [30] Systemic AAV9-IGHMBP2 Gene Therapy Administration Ameliorates Disease Phenotype in Symptomatic Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) Mice
    Pagliari, Elisa
    Anastasia, Alessia
    Garbellini, Manuela
    Melzi, Valentina
    Bellandi, Floriana
    Taiana, Michela
    Comi, Giacomo P.
    Corti, Stefania P.
    Nizzardo, Monica
    MOLECULAR THERAPY, 2023, 31 (04) : 335 - 335