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11 . Academic Journal
The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3‐related muscular dystrophy.
저자
by
Valls, Andrea
;
Gutiérrez‐Gutiérrez, Gerardo
;
Martínez, Agustín
;
Ruiz‐Roldán, Cristina
;
Camaño, Pilar
, et al.
소스
Muscle & Nerve
. Apr2024, Vol. 69 Issue 4, p472-476. 5p.
Full Text (Wiley)
Web of Science
Scopus
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17 . Academic Journal
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study
저자
by
Pottier, Cyril
;
Zhou, Xiaolai
;
Perkerson, Ralph B, III
;
Baker, Matt
;
Jenkins, Gregory D
, et al.
소스
In
The Lancet Neurology
June 2018 17(6):548-558
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17 . Academic Journal
Nontraditional Lipid Variables Predict Recurrent Brain Ischemia in Embolic Stroke of Undetermined Source
저자
by
de la Riva, Patricia
;
Zubikarai, Maitane
;
Sarasqueta, Cristina
;
Tainta, Mikel
;
Muñoz-Lopetegui, Amaia
, et al.
소스
In
Journal of Stroke and Cerebrovascular Diseases
August 2017 26(8):1670-1677
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17 . Academic Journal
A mammalian-specific Alex3/Gα
q
protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival.
저자
by
Izquierdo-Villalba, Ismael
;
Mirra, Serena
;
Manso, Yasmina
;
Parcerisas, Antoni
;
Rubio, Javier
, et al.
소스
Science Signaling; 2/6/2024, Vol. 17 Issue 822, p1-21, 21p
Web of Science
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17 . 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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17 . Academic Journal
Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions.
저자
by
Rico, Anabel
;
Valls, Andrea
;
Guembelzu, Garazi
;
Azpitarte, Margarita
;
Aiastui, Ana
, et al.
소스
Orphanet Journal of Rare Diseases
. 10/10/2023, Vol. 18 Issue 1, p1-16. 16p.
Open Access (BioMed Central)
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17 . Academic Journal
Leucine-rich repeat kinase 2 modulates cyclooxygenase 2 and the inflammatory response in idiopathic and genetic Parkinson's disease
저자
by
Lopez de Maturana, Rakel
;
Aguila, Julio C.
;
Sousa, Amaya
;
Vazquez, Nerea
;
del Rio, Patricia
, et al.
소스
In
Neurobiology of Aging
May 2014 35(5):1116-1124
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17 . Academic Journal
PGRN haploinsufficiency increased Wnt5a signaling in peripheral cells from frontotemporal lobar degeneration-progranulin mutation carriers
저자
by
Alquézar, Carolina
;
Esteras, Noemí
;
de la Encarnación, Ana
;
Alzualde, Ainhoa
;
Moreno, Fermín
, et al.
소스
In
Neurobiology of Aging
April 2014 35(4):886-898
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17 . Academic Journal
Distinctive age-related temporal cortical thinning in asymptomatic granulin gene mutation carriers
저자
by
Moreno, Fermín
;
Sala-Llonch, Roser
;
Barandiaran, Myriam
;
Sánchez-Valle, Raquel
;
Estanga, Ainara
, et al.
소스
In
Neurobiology of Aging
May 2013 34(5):1462-1468
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17 .
Autores
저자
by
Zarranz, Juan José
;
Gómez-Esteban, Juan Carlos
;
Fernández, Manuel
;
Pascual, Julio
;
Agundez, Marta
, et al.
소스
In
Neurología
Edition: Seventh Edition. 2024:vi-viii
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