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1.	Le, TL, et al. (author) Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans 2021 In: The Journal of clinical investigation. - 1558-8238. ; 131:6 Journal article (peer-reviewed)
2.	Le, TL, et al. (author) Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans 2021 In: The Journal of clinical investigation. - 1558-8238. ; 131:6 Journal article (peer-reviewed)
3.	Malfatti, E., et al. (author) A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle 2016 In: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966. ; 26:10, s. 681-687 Journal article (peer-reviewed)abstract Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues. Neuromuscular forms present with fetal akinesia deformation sequence, lethal myopathy, or mild hypotonia and weakness. A 3-year-old boy presented with arthrogryposis, motor developmental delay, weakness, and rigid spine. Whole body MRI revealed fibroadipose muscle replacement but sparing of the sartorius, gracilis, adductor longus and vastus intermedialis muscles. Polyglucosan bodies were identified in muscle, and GBE1 gene analysis revealed two pathogenic variants. We describe a novel neuromuscular GSD IV phenotype and confirm the importance of muscle morphological studies in early onset neuromuscular disorders. © 2016

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Type of publication: journal article (3)

Type of content: peer-reviewed (3)

Author/Editor: Nitschke, P (3); Gitiaux, C (3); Lefebvre, M. (2); Brooks, A (2); Levy, J (2); Hofstra, R (2); show more...; Goulet, O (2); Molina, TJ (2); Lyonnet, S (2); Chardot, C (2); Mouthon, L (2); Smeets, HJM (2); Marklund, U (2); Gordon, CT (2); Amiel, J (2); Bole-Feysot, C (2); Whalen, S (2); Keren, B (2); Drunat, S (2); Babcock, HE (2); Tabet, AC (2); Le, TL (2); Galmiche, L (2); Suwannarat, P (2); Hellebrekers, DM (2); Morarach, K (2); Boismoreau, F (2); Pelet, A (2); Martinovic, J (2); Gelot, A (2); Guimiot, F (2); Calleroz, A (2); Hully, M (2); Capri, Y (2); Bondurand, N (2); de Coo, IFM (2); Theunissen, TEJ (2); Oldfors, Anders, 195 ... (1); Malfatti, E. (1); Oldfors Hedberg, Car ... (1); Romero, N. B. (1); Quijano-Roy, S (1); Barnerias, C (1); Theunissen, TE (1); de Coo, IF (1); Smeets, HJ (1); Benezit, A. (1); Carlier, R. Y. (1); show less...

University: Karolinska Institutet (2); University of Gothenburg (1)

Language: English (3)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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