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A Jordanova

Showing results (21-30 of 31) with videos related to

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Neurology|October 15, 2003
Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entityG Lus, E Nelis, A Jordanova, et al.
Clinical Genetics|November 15, 2006
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegiaN Ivanova, A Löfgren, I Tournev, et al.
Neurology|May 21, 2010
Four generations of epilepsy caused by an inherited microdeletion of the SCN1A geneA Suls, R Velizarova, I Yordanova, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 17, 2018
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literatureI Ivanov, D Atkinson, I Litvinenko, et al.
American Journal of Human Genetics|October 16, 1999
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)L Kalaydjieva, A Perez-Lezaun, D Angelicheva, et al.
Neurology|September 30, 2010
Mutations in SACS cause atypical and late-onset forms of ARSACSJ Baets, T Deconinck, K Smets, et al.
Neurology|September 30, 2010
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutationsL Deprez, S Weckhuysen, P Holmgren, et al.
Brain : a Journal of Neurology|February 5, 2003
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth diseaseA Jordanova, P De Jonghe, C F Boerkoel, et al.
Neurology|July 15, 2011
Dominant GDAP1 mutations cause predominantly mild CMT phenotypesM Zimoń, J Baets, G M Fabrizi, et al.
Neurology|December 2, 2011
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiencyV Guergueltcheva, K Peeters, J Baets, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Neurology|October 15, 2003
Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entityG Lus, E Nelis, A Jordanova, et al.
Clinical Genetics|November 15, 2006
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegiaN Ivanova, A Löfgren, I Tournev, et al.
Neurology|May 21, 2010
Four generations of epilepsy caused by an inherited microdeletion of the SCN1A geneA Suls, R Velizarova, I Yordanova, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 17, 2018
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literatureI Ivanov, D Atkinson, I Litvinenko, et al.
American Journal of Human Genetics|October 16, 1999
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)L Kalaydjieva, A Perez-Lezaun, D Angelicheva, et al.
Neurology|September 30, 2010
Mutations in SACS cause atypical and late-onset forms of ARSACSJ Baets, T Deconinck, K Smets, et al.
Neurology|September 30, 2010
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutationsL Deprez, S Weckhuysen, P Holmgren, et al.
Brain : a Journal of Neurology|February 5, 2003
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth diseaseA Jordanova, P De Jonghe, C F Boerkoel, et al.
Neurology|July 15, 2011
Dominant GDAP1 mutations cause predominantly mild CMT phenotypesM Zimoń, J Baets, G M Fabrizi, et al.
Neurology|December 2, 2011
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiencyV Guergueltcheva, K Peeters, J Baets, et al.
Pageof 4