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1 . Academic Journal
A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy
저자
by
Payam Mohassel
;
Pomi Yun
;
Safoora Syeda
;
Abhinandan Batra
;
Andrew J. Bradley
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1442-1455 (2023)
Open Access (Wiley)
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Web of Science
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7 . Academic Journal
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
저자
by
Quijano-Roy, Susana
;
Haberlova, Jana
;
Castiglioni, Claudia
;
Vissing, John
;
Munell, Francina
, et al.
소스
Journal of Neurology
. 269(5):2414-2429
Web of Science
Scopus
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7 . Academic Journal
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
저자
by
Cristina Domínguez-González
;
Marcos Madruga-Garrido
;
Michio Hirano
;
Itxaso Martí
;
Miguel A. Martín
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons
저자
by
Alba Sansa
;
Ivan Hidalgo
;
Maria P. Miralles
;
Sandra de la Fuente
;
M. Jose Perez-Garcia
, et al.
소스
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-15 (2021)
Open Access (BioMed Central)
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7 . Academic Journal
Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons
저자
by
Sansa, Alba
;
Hidalgo, Ivan
;
Miralles, Maria P.
;
de la Fuente, Sandra
;
Perez-Garcia, M. Jose
, et al.
소스
Acta Neuropathologica Communications
. 9(1)
Open Access (BioMed Central)
Web of Science
Scopus
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7 . Academic Journal
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
저자
by
Domínguez-González, Cristina
;
Madruga-Garrido, Marcos
;
Hirano, Michio
;
Martí, Itxaso
;
Martín, Miguel A.
, et al.
소스
Orphanet Journal of Rare Diseases
. 16(1)
Open Access (BioMed Central)
Web of Science
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7 . Academic Journal
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
저자
by
Laura Blasco-Pérez
;
Mar Costa-Roger
;
Jordi Leno-Colorado
;
Sara Bernal
;
Laura Alias
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 15, p 8289 (2022)
Open Access (DOAJ)
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7 . Academic Journal
Congenital myasthenic syndrome caused by novel COL13A1 mutations
저자
by
Dusl, Marina
;
Moreno, Teresa
;
Munell, Francina
;
Macaya, Alfons
;
Gratacòs, Margarida
, et al.
소스
Journal of Neurology
. 266(5):1107-1112
Web of Science
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7 .
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
저자
by
Eugenio Mercuri
;
Nicolas Deconinck
;
Elena S Mazzone
;
Andres Nascimento
;
Maryam Oskoui
, et al.
소스
LANCET NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Full Text (Clinical Key)
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7 .
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord
저자
by
Parith Wongkittichote
;
Tae‐Ik Choi
;
Oc‐Hee Kim
;
Kacie Riley
;
Dwight Koeberl
, et al.
소스
Clinical geneticsREFERENCES
.
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