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ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder.

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Title: ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder.
Authors: Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address: mscala.md@gmail.com., Sahu RK; Department of Neurology, Houston Methodist Research Institute, Houston, TX 77030, USA., Severino M; Neuroradiology Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., Traverso M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Iacomino M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Pedemonte M; U.O.S.D. Centro Traslazionale di Miologia e Patologie Neurodegenerative, Genoa, Italy., Santorelli F; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy., Tozza S; Department of Neuroscience, Reproductive and Odontostomatological Science, University of Naples 'Federico II', Naples, Italy., Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Fiorillo C; U.O.S.D. Centro Traslazionale di Miologia e Patologie Neurodegenerative, Genoa, Italy., Chung HL; Department of Neurology, Houston Methodist Research Institute, Houston, TX 77030, USA; Department of Neurology, Weill Cornell Medical College, New York, NY 10065, USA. Electronic address: hchung2@houstonmethodist.org.
Source: HGG advances [HGG Adv] 2026 Apr 09; Vol. 7 (2), pp. 100587. Date of Electronic Publication: 2026 Mar 10.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder.
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  Data: <searchLink fieldCode="AU" term="%22Scala+M%22">Scala M</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address: mscala.md@gmail.com.<br /><searchLink fieldCode="AU" term="%22Sahu+RK%22">Sahu RK</searchLink>; Department of Neurology, Houston Methodist Research Institute, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Severino+M%22">Severino M</searchLink>; Neuroradiology Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Traverso+M%22">Traverso M</searchLink>; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Iacomino+M%22">Iacomino M</searchLink>; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Pedemonte+M%22">Pedemonte M</searchLink>; U.O.S.D. Centro Traslazionale di Miologia e Patologie Neurodegenerative, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Santorelli+F%22">Santorelli F</searchLink>; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Tozza+S%22">Tozza S</searchLink>; Department of Neuroscience, Reproductive and Odontostomatological Science, University of Naples 'Federico II', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Zara+F%22">Zara F</searchLink>; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Fiorillo+C%22">Fiorillo C</searchLink>; U.O.S.D. Centro Traslazionale di Miologia e Patologie Neurodegenerative, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Chung+HL%22">Chung HL</searchLink>; Department of Neurology, Houston Methodist Research Institute, Houston, TX 77030, USA; Department of Neurology, Weill Cornell Medical College, New York, NY 10065, USA. Electronic address: hchung2@houstonmethodist.org.
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  Data: <searchLink fieldCode="JN" term="%22101772885%22">HGG advances</searchLink> [HGG Adv] 2026 Apr 09; Vol. 7 (2), pp. 100587. <i>Date of Electronic Publication: </i>2026 Mar 10.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101772885 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2666-2477 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2226662477%22">26662477 </searchLink><i>NLM ISO Abbreviation: </i>HGG Adv <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.xhgg.2026.100587
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              Text: 2026 Apr 09
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