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Author/Creator De Vriendt, Els

1. Charcot–Marie–Tooth disease type 2G redefined by a novel mutation in LRSAM1. Issue 6 (30th September 2016)

Authors:
Peeters, Kristien; Palaima, Paulius; Pelayo‐Negro, Ana L.; García, Antonio; Gallardo, Elena; García‐Barredo, Rosario; Mateiu, Ligia; Baets, Jonathan; Menten, Björn; De Vriendt, Els; De Jonghe, Peter; Timmerman, Vincent; Infante, Jon; Berciano, José; Jordanova, Albena
Journal:
Annals of neurology
Issue:
Volume 80:Issue 6(2016:Dec.)
Page Start:
823
Record Type:
Journal Article
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2. HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report. Issue 10 (25th September 2021)

Authors:
de Aguiar Coelho Silva Madeiro, Bianca; Peeters, Kristien; Santos de Lima, Elker Lene; Amor‐Barris, Silvia; De Vriendt, Els; Jordanova, Albena; Cartaxo Muniz, Maria Tereza; da Cunha Correia, Carolina
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 10(2021)
Page Start:
n/a
Record Type:
Journal Article
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3. Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies. Issue 3 (13th March 2015)

Authors:
Peeters, Kristien; Bervoets, Sven; Chamova, Teodora; Litvinenko, Ivan; De Vriendt, Els; Bichev, Stoyan; Kancheva, Dahlia; Mitev, Vanyo; Kennerson, Marina; Timmerman, Vincent; De Jonghe, Peter; Tournev, Ivailo; MacMillan, John; Jordanova, Albena
Journal:
Human mutation
Issue:
Volume 36:Issue 3(2015:Mar.)
Page Start:
287
Record Type:
Journal Article
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4. Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies. Issue 3 (March 2015)

Authors:
Peeters, Kristien; Bervoets, Sven; Chamova, Teodora; Litvinenko, Ivan; De Vriendt, Els; Bichev, Stoyan; Kancheva, Dahlia; Mitev, Vanyo; Kennerson, Marina; Timmerman, Vincent; De Jonghe, Peter; Tournev, Ivailo; MacMillan, John; Jordanova, Albena
Journal:
Human mutation
Issue:
Volume 36:Issue 3(2015:Mar.)
Page Start:
287
Record Type:
Journal Article
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5. Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. (7th February 2017)

Authors:
Atkinson, Derek; Nikodinovic Glumac, Jelena; Asselbergh, Bob; Ermanoska, Biljana; Blocquel, David; Steiner, Regula; Estrada-Cuzcano, Alejandro; Peeters, Kristien; Ooms, Tinne; De Vriendt, Els; Yang, Xiang-Lei; Hornemann, Thorsten; Milic Rasic, Vedrana; Jordanova, Albena
Journal:
Neurology
Issue:
Volume 88:Number 6(2017)
Page Start:
Record Type:
Journal Article
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6. Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. (7th February 2017)

Authors:
Atkinson, Derek; Nikodinovic Glumac, Jelena; Asselbergh, Bob; Ermanoska, Biljana; Blocquel, David; Steiner, Regula; Estrada-Cuzcano, Alejandro; Peeters, Kristien; Ooms, Tinne; De Vriendt, Els; Yang, Xiang-Lei; Hornemann, Thorsten; Milic Rasic, Vedrana; Jordanova, Albena
Journal:
Neurology
Issue:
Volume 88:Number 6(2017)
Page Start:
533
Record Type:
Journal Article
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