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1 . Academic Journal
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
저자
by
Schlüter, Agatha
;
Vélez-Santamaría, Valentina
;
Verdura, Edgard
;
Rodríguez-Palmero, Agustí
;
Ruiz, Montserrat
, et al.
소스
Genome Medicine
. 15(1)
Open Access (BioMed Central)
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7 . Academic Journal
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
저자
by
Agatha Schlüter
;
Valentina Vélez-Santamaría
;
Edgard Verdura
;
Agustí Rodríguez-Palmero
;
Montserrat Ruiz
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
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7 . Academic Journal
Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study
저자
by
Navas-Sánchez, Francisco J.
;
Marcos-Vidal, Luis
;
de Blas, Daniel Martín
;
Fernández-Pena, Alberto
;
Alemán-Gómez, Yasser
, et al.
소스
Journal of Neurology
. 269(6):3189-3203
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7 . Academic Journal
Severe neurometabolic phenotype in npc1−/− zebrafish with a C-terminal mutation
저자
by
Ana Quelle-Regaldie
;
Nerea Gandoy-Fieiras
;
Paula Rodríguez-Villamayor
;
Sandra Maceiras
;
Ana Paula Losada
, et al.
소스
Frontiers in Molecular Neuroscience, Vol 16 (2023)
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7 . Academic Journal
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
저자
by
Navas-Sánchez, Francisco J.
;
Fernández-Pena, Alberto
;
Martín de Blas, Daniel
;
Alemán-Gómez, Yasser
;
Marcos-Vidal, Luís
, et al.
소스
Journal of Neurology
. 268(7):2429-2440
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7 . Academic Journal
A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype
저자
by
Ana Quelle-Regaldie
;
Mónica Folgueira
;
Julián Yáñez
;
Daniel Sobrido-Cameán
;
Anabel Alba-González
, et al.
소스
Biomedicines, Vol 10, Iss 8, p 1814 (2022)
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7 . Academic Journal
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
저자
by
María-Jesús Sobrido
;
Peter Bauer
;
Tom de Koning
;
Thomas Klopstock
;
Yann Nadjar
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-14 (2019)
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7 . Academic Journal
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo
저자
by
Tiffany W. Todd
;
Zachary T. McEachin
;
Jeannie Chew
;
Alexander R. Burch
;
Karen Jansen-West
, et al.
소스
Cell Reports, Vol 31, Iss 5, Pp - (2020)
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7 . Academic Journal
An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA)
저자
by
Haitham Maarouf
;
María Taboada
;
Hadriana Rodriguez
;
Manuel Arias
;
Ángel Sesar
, et al.
소스
BMC Medical Informatics and Decision Making, Vol 17, Iss 1, Pp 1-17 (2017)
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7 . Academic Journal
Zebrafish Models of Autosomal Recessive Ataxias
저자
by
Ana Quelle-Regaldie
;
Daniel Sobrido-Cameán
;
Antón Barreiro-Iglesias
;
María Jesús Sobrido
;
Laura Sánchez
.
소스
Cells, Vol 10, Iss 4, p 836 (2021)
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