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1 . Academic Journal
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
저자
by
Moore, Ursula
;
Gordish, Heather
;
Diaz-Manera, Jordi
;
James, Meredith K.
;
Mayhew, Anna G.
, et al.
소스
In
Neuromuscular Disorders
April 2021 31(4):265-280
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7 . Academic Journal
Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.
저자
by
Zufiría, Mónica
;
Pikatza-Menoio, Oihane
;
Garciandia-Arcelus, Maddi
;
Bengoetxea, Xabier
;
Jiménez, Andrés
, et al.
소스
Acta Neuropathologica
. 9/16/2024, Vol. 148 Issue 1, p1-27. 27p.
Web of Science
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7 . Academic Journal
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
저자
by
Iruzubieta, Pablo
;
Damborenea, Alberto
;
Ioghen, Mihaela
;
Bajew, Simon
;
Fernandez-Torrón, Roberto
, et al.
소스
Brain: A Journal of Neurology
. Aug2024, Vol. 147 Issue 8, p2867-2883. 17p.
Full Text (OUP)
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7 . Academic Journal
Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1‐Related Syndrome.
저자
by
Albajar, Ines
;
Iruzubieta, Pablo
;
Barandiaran, Myriam
;
Alves, Patricia
;
Pujol, Aurora
, et al.
소스
Movement Disorders
. Jul2024, Vol. 39 Issue 7, p1246-1248. 3p.
Full Text (Wiley)
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7 . Academic Journal
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
저자
by
Díaz-Manera, Jordi
;
Alejaldre, Aida
;
González, Laura
;
Olivé, Montse
;
Gómez-Andrés, David
, et al.
소스
In
Neuromuscular Disorders
January 2016 26(1):33-40
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7 . Academic Journal
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia.
저자
by
Iruzubieta, Pablo
;
Pellerin, David
;
Bergareche, Alberto
;
Albajar, Inés
;
Mondragón, Elisabet
, et al.
소스
European Journal of Neurology
. Dec2023, Vol. 30 Issue 12, p3828-3833. 6p.
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7 . Conference
265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands
저자
by
Attarian, Shahram
;
Badiani, Raj
;
Bendahan, David
;
Carlier, Pierre
;
Carlier, Robert-Yves
, et al.
소스
In
Neuromuscular Disorders
January 2023 33(1):65-75
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7 . Academic Journal
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
저자
by
Esteller, Diana
;
Schiava, Marianela
;
Verdú-Díaz, José
;
Villar-Quiles, Rocío-Nur
;
Dibowski, Boris
, et al.
소스
Journal of Neurology
. 271(4):2147-2148
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7 . Academic Journal
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
저자
by
Esteller, Diana
;
Schiava, Marianela
;
Verdú-Díaz, José
;
Villar-Quiles, Rocío-Nur
;
Dibowski, Boris
, et al.
소스
Journal of Neurology
. 270(12):5849-5865
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7 . Academic Journal
Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1).
저자
by
Alegre-Cortés, Eva
;
Giménez-Bejarano, Alberto
;
Uribe-Carretero, Elisabet
;
Paredes-Barquero, Marta
;
Marques, André R. A.
, et al.
소스
Cells (2073-4409)
. Oct2022, Vol. 11 Issue 19, p3018. 19p.
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