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1 . Academic Journal
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
저자
by
Maike F. Dohrn
;
Guney Bademci
;
Adriana P. Rebelo
;
Médéric Jeanne
;
Nicholas A. Borja
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 1075-1079 (2024)
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7 . Academic Journal
Deep structured learning for variant prioritization in Mendelian diseases
저자
by
Matt C. Danzi
;
Maike F. Dohrn
;
Sarah Fazal
;
Danique Beijer
;
Adriana P. Rebelo
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
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7 . Academic Journal
Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency
저자
by
Yi Zhu
;
Amanda G. Lobato
;
Adriana P. Rebelo
;
Tijana Canic
;
Natalie Ortiz-Vega
, et al.
소스
JCI Insight, Vol 8, Iss 10 (2023)
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7 .
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease
저자
by
Feride Cinarli Yuksel
;
Paschalis Nicolaou
;
Kerri Spontarelli
;
Maike F. Dohrn
;
Adriana P. Rebelo
, et al.
소스
Journal of Neurology
. 270:2576-2590
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7 .
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease
저자
by
Adriana P. Rebelo
;
Ariel Ruiz
;
Maike F. Dohrn
;
Melanie Wayand
;
Amjad Farooq
, et al.
소스
Genetics in medicine 12, 2487-2500 (2022). doi:10.1016/j.gim.2022.08.019
Genetics in medicine
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7 .
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome
저자
by
Maike F. Dohrn
;
Adriana P. Rebelo
;
Siddharth Srivastava
;
Gerarda Cappuccio
;
Robert Smigiel
, et al.
소스
Neurology, 98(11), 440-445. Lippincott Williams & Wilkins
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7 .
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement
저자
by
Diana Castro
;
Mary M. Reilly
;
Steve Courel
;
Amit Abraham
;
Lisa Abreu
, et al.
소스
Brain
. 144:1197-1213
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7 .
Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement
저자
by
Vladimir Camarena
;
Yunhong Bai
;
Diana Castro
;
Chelsea Bacon
;
Andrea Cortese
, et al.
소스
Brain
Full Text (OUP)
Open Access (OpenAIRE)
Scopus
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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 .
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A
저자
by
John W. Day
;
Davide Pareyson
;
Camila Lopez-Anido
;
Frank Baas
;
John Svaren
, et al.
소스
Annals of Neurology
. 85:316-330
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