Ghent University Academic Bibliography

Your filters: cql: author="Goemans, Nathalie" or (type any "bookEditor issueEditor" and editor="Goemans, Nathalie")

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Gait classification for growing children with Duchenne muscular dystrophy

Ines Vandekerckhove, Eirini Papageorgiou, Britta Hanssen (UGent) , Nathalie De Beukelaer, Marleen Van den Hauwe, Nathalie Goemans, Anja Van Campenhout, Liesbeth De Waele, Friedl De Groote and Kaat Desloovere

(2024) SCIENTIFIC REPORTS. 14(1).
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Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

Maryam Oskoui, John W. Day, Nicolas Deconinck (UGent) , Elena S. Mazzone, Andres Nascimento, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Nathalie Goemans, Janbernd Kirschner, et al.

(2023) JOURNAL OF NEUROLOGY. 270(5). p.2531-2546
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Instrumented strength assessment in typically developing children and children with a neural or neuromuscular disorder : a reliability, validity and responsiveness study

Ineke Verreydt, Ines Vandekerckhove, Elze Stoop, Nicky Peeters, Vanessa Van Tittelboom, Patricia Van de Walle, Marleen Van den Hauwe, Nathalie Goemans, Liesbeth De Waele, Anja Van Campenhout, et al.

(2022) FRONTIERS IN PHYSIOLOGY. 13.
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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Sarah Delbaere (UGent) , Tibbe Dhooge, Delfien Syx (UGent) , Florence Petit, Nathalie Goemans, Anne Destrée, Olivier Vanakker (UGent) , Riet De Rycke (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2020) GENETICS IN MEDICINE. 22(1). p.112-123
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Injection site reactions after long-term subcutaneous delivery of drisapersen : a retrospective study

Niels Hilhorst, Ifigenia Spanoudi-Kitrimi, Nathalie Goemans and Marie-Anne Morren

(2019) EUROPEAN JOURNAL OF PEDIATRICS. 178(2). p.253-258
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- Conference Paper
- C3
Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix

Sarah Delbaere (UGent) , Tibbe Dhooge, Delfien Syx (UGent) , Florence Petit, Nathalie Goemans, Anne Destree, Olivier Vanakker (UGent) , Riet De Rycke (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2019) Belgian Society for Human Genetics, 19th Annual meeting, Abstracts.
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Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Fransiska Malfait (UGent) , Sofie Symoens (UGent) , Nathalie Goemans, Yolanda Gyftodimou, Eva Holmberg, Vanesa Lopez-Gonzalez, Geert Mortier (UGent) , Sheela Nampoothiri, Michael Bjorn Petersen and Anne De Paepe (UGent)

(2013) ORPHANET JOURNAL OF RARE DISEASES. 8.
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Mutations in PEX10 are a cause of autosomal recessive ataxia

Luc Régal, Merel S Ebberink, Nathalie Goemans, Ronald JA Wanders, Linda De Meirleir, Jacques Jaeken, Maarten Schrooten, Rudy Van Coster (UGent) and Hans R Waterham

(2010) ANNALS OF NEUROLOGY. 68(2). p.259-263
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Mutations in PEX10 Are a Cause of Autosomal Recessive Spinocerebellar Ataxia

Luc Régal, Merel Ebberink, Ronald Wanders, Hans Waterham, Linda De Meirleir, Jaak Jaeken, Rudy Van Coster (UGent) , Maarten Schrooten and Nathalie Goemans

(2009) Neurology. 72(11). p.A396-A396

Academic Bibliography

Gait classification for growing children with Duchenne muscular dystrophy

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

Instrumented strength assessment in typically developing children and children with a neural or neuromuscular disorder : a reliability, validity and responsiveness study

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Injection site reactions after long-term subcutaneous delivery of drisapersen : a retrospective study

Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Mutations in PEX10 are a cause of autosomal recessive ataxia

Mutations in PEX10 Are a Cause of Autosomal Recessive Spinocerebellar Ataxia

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