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1.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Article
in English
| MEDLINE | ID: mdl-32738225
2.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Article
in English
| MEDLINE | ID: mdl-33970200
3.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(8): e70, 2021 09 04.
Article
in English
| MEDLINE | ID: mdl-34480796
4.
Screening for antecedent Campylobacter jejuni infections and anti-ganglioside antibodies in idiopathic neuralgic amyotrophy.
J Peripher Nerv Syst
; 16(2): 153-6, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21692917
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