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1 . Academic Journal
Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
저자
by
Sabrina Ehnert
;
Stefan Hauser
;
Holger Hengel
;
Philip Höflinger
;
Rebecca Schüle
, et al.
소스
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
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7 . Academic Journal
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
저자
by
Danique Beijer
;
Hong Joo Kim
;
Lin Guo
;
Kevin O’Donovan
;
Inès Mademan
, et al.
소스
JCI Insight, Vol 6, Iss 14 (2021)
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7 . Academic Journal
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
저자
by
Aleksandra Siekierska
;
Hannah Stamberger
;
Tine Deconinck
;
Stephanie N. Oprescu
;
Michèle Partoens
, et al.
소스
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
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7 .
A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype
저자
by
Willem De Ridder
;
Geert de Vries
;
Kristof Van Schil
;
Tine Deconinck
;
Vincent Mouly
, et al.
소스
Neuromuscular Disorders
. 33:432-439
Full Text (Clinical Key)
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7 .
Distinct features in adult polyglucosan body disease
저자
by
Jonathan De Winter
;
Gert Cypers
;
Edwin Jacobs
;
Stephanie Vanden Bossche
;
Tine Deconinck
, et al.
소스
Neuromuscular Disorders, 33(2), 148-152. Elsevier Ltd.
Neuromuscular disorders
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7 .
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
저자
by
Inès Mademan
;
Lauren E. Drake
;
James Shorter
;
Kevin J. O'Donovan
;
Alice Flynn Ford
, et al.
소스
Jci Insight, 6, 14
JCI Insight, 6(14). AMER SOC CLINICAL INVESTIGATION INC
JCI Insight
JCI insight, Vol. 6, no.14, p. 1-18 (2021)
Jci Insight, 6
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7 .
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
저자
by
Jenny Carmichael
;
Federico Zara
;
Konstantinos Ampatzis
;
Somayeh Bakhtiari
;
Sherifa A. Hamed
, et al.
소스
Brain
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7 .
DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISM
저자
by
Lin Guo
;
Nicol C. Voermans
;
Danique Beijer
;
N Dubuisson
;
Charlotte M. Fare
, et al.
소스
Open Access (OpenAIRE)
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7 .
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
저자
by
Juliane S Müller
;
Adriana P. Rebelo
;
Fatima Rahman
;
Isabella Ceccherini
;
Shoji Tsuji
, et al.
소스
Brain
Brain 144(5), 1422-1434 (2021). doi:10.1093/brain/awab041
Brain, 144, 5, pp. 1422-1434
Brain, 144, 1422-1434
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7 .
Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response
저자
by
Stojan Peric
;
Jonathan Baets
;
Johannes Gregor Matthias Rack
;
Vedrana Milic Rasic
;
Danique Beijer
, et al.
소스
Life Sci Alliance
Life Science Alliance
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