Natural history of spinal muscular atrophy patients with 3 and 4 copies of SMN2 gene - data from the national Spanish registry (CUIDAME)

被引：0

作者：

Aragon Gawinska, K. ^{[1
]}

Fernandez Garcia, M. ^{[2
]}

Nascimiento Osorio, A. ^{[3
]}

Paradas, C. ^{[4
]}

Sotoca, J. ^{[5
]}

Povedano, M. ^{[6
]}

Moreno, A. ^{[7
]}

Henao, M. ^{[8
]}

Gil, C. ^{[9
]}

Rojas, R. ^{[10
]}

Gomez Caravaca, M. ^{[11
]}

Grimalt, M. ^{[12
]}

Fernandez Torron, R. ^{[13
]}

Jerico, I. ^{[14
]}

Garcia Campos, O. ^{[15
]}

Toledo Bravo de Laguna, L. ^{[16
]}

Hervas, D. ^{[17
]}

Tizzano, E. ^{[18
,19
,20
]}

Vazquez Costa, J. ^{[1
,21
,22
]}

机构：

[1] Hosp Univ & Politecn La Fe, Neuromuscular Unit, Dept Neurol, Valencia, Spain

[2] Hosp Univ La Paz, Dept Neuropediat, Madrid, Spain

[3] Hosp St Joan Deu, Neuromuscular Unit, Neuropediat Dept, Inst Recerca Pediat, Barcelona, Spain

[4] Hosp Virgen del Rocio, Dept Neurol, Seville, Spain

[5] Hosp Univ Vall dHebron, Dept Neurol, Barcelona, Spain

[6] Bellvitge Hosp IDIBELL, Dept Neurol, Motor Neuron Unit, Barcelona, Spain

[7] Hosp Clin Univ Virgen de la Arrixaca, Dept Neurol, Neuromuscular Unit, Murcia, Spain

[8] Univ Hosp Nuestra Senora Candelaria, Dept Neurol, Tenerfie, Spain

[9] Univ Hosp Burgos, Dept Neurol, Burgos, Spain

[10] Hosp Santa Creu & Sant Pau, Dept Neurol, Neuromuscular Unit, Barcelona, Spain

[11] Univ Hosp Reina Sofia, Dept Neurol, Cordoba, Spain

[12] Univ Hosp Son Espases, Dept Neuropediat, Palma De Mallorca, Spain

[13] Univ Hosp Donostia, Dept Neurol, San Sebastian, Spain

[14] Univ Hosp Navarra, Dept Neurol, Navarra, Spain

[15] Hosp Gen Univ Toledo, Dept Pediat Neurol, Toledo, Spain

[16] Univ Hosp Maternoinfantil Canarias, Dept Pediat Neurol, Las Palmas Gran Canaria, Spain

[17] Univ Politecn Valencia, Dept Appl Stat & Operat Res & Qual, Valencia, Spain

[18] Hosp Valle De Hebron, VHIR, Dept Clin & Mol Genet, Barcelona, Spain

[19] Hosp Valle De Hebron, VHIR, Rare Dis Unit, Barcelona, Spain

[20] Hosp Valle De Hebron, VHIR, Med Genet Grp, Barcelona, Spain

[21] Univ Valencia, Dept Med, Valencia, Spain

[22] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain

来源：

NEUROMUSCULAR DISORDERS | 2024年 / 43卷

关键词：

D O I：

10.1016/j.nmd.2024.07.461

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

201P

引用

页数：1