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ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.

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Title: ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.
Authors: Caramizaru A; Regional Center for Medical Genetics Dolj, Craiova, Romania.; Medical Genetics Department, University of Medicine and Pharmacy of Craiova, Craiova, Romania., Onnée M; University Paris Est Créteil, Inserm, U955, IMRB, Créteil, France., Nikitin S; Research Center for Medical Genetics, Moscow, Russia., Dobrescu A; Regional Center for Medical Genetics Dolj, Craiova, Romania.; Medical Genetics Department, University of Medicine and Pharmacy of Craiova, Craiova, Romania., Severa G; University Paris Est Créteil, Inserm, U955, IMRB, Créteil, France.; Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, France., Murtazina A; Research Center for Medical Genetics, Moscow, Russia., Urtizberea A; Institut de Myologie, Paris, France., Lefaucheur JP; Excitabilité Nerveuse et Thérapeutique, Faculté de Médecine de Créteil, Université Paris-Est-Créteil, Hôpital Henri Mondor, Créteil, France.; Service de Physiologie-Explorations Fonctionnelles, Hôpital Henri Mondor, Créteil, France., Carlier RY; AP-HP, GHU Paris-Saclay, DMU Smart Imaging, Medical Imaging Department, Raymond-Poincaré Teaching Hospital, Garches, France.; UMR 1179 End:Icap, UVSQ-Paris-Saclay University, Paris, France., Metay C; APHP, Centre de Génétique Moléculaire et Chromosomique, Service de Biochimie Métabolique, U. F de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Groupe Hospitalier La Pitié-Salpêtrière Charles Foix, Paris, France.; INSERM UMRS 974, Sorbonne University, Institute of Myology, Paris, France., Malfatti E; University Paris Est Créteil, Inserm, U955, IMRB, Créteil, France.; Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, France.
Source: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2026 Apr; Vol. 52 (2), pp. e70067.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7609829 Publication Model: Print Cited Medium: Internet ISSN: 1365-2990 (Electronic) Linking ISSN: 03051846 NLM ISO Abbreviation: Neuropathol Appl Neurobiol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.
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  Data: <searchLink fieldCode="AU" term="%22Caramizaru+A%22">Caramizaru A</searchLink>; Regional Center for Medical Genetics Dolj, Craiova, Romania.; Medical Genetics Department, University of Medicine and Pharmacy of Craiova, Craiova, Romania.<br /><searchLink fieldCode="AU" term="%22Onnée+M%22">Onnée M</searchLink>; University Paris Est Créteil, Inserm, U955, IMRB, Créteil, France.<br /><searchLink fieldCode="AU" term="%22Nikitin+S%22">Nikitin S</searchLink>; Research Center for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Dobrescu+A%22">Dobrescu A</searchLink>; Regional Center for Medical Genetics Dolj, Craiova, Romania.; Medical Genetics Department, University of Medicine and Pharmacy of Craiova, Craiova, Romania.<br /><searchLink fieldCode="AU" term="%22Severa+G%22">Severa G</searchLink>; University Paris Est Créteil, Inserm, U955, IMRB, Créteil, France.; Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, France.<br /><searchLink fieldCode="AU" term="%22Murtazina+A%22">Murtazina A</searchLink>; Research Center for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Urtizberea+A%22">Urtizberea A</searchLink>; Institut de Myologie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lefaucheur+JP%22">Lefaucheur JP</searchLink>; Excitabilité Nerveuse et Thérapeutique, Faculté de Médecine de Créteil, Université Paris-Est-Créteil, Hôpital Henri Mondor, Créteil, France.; Service de Physiologie-Explorations Fonctionnelles, Hôpital Henri Mondor, Créteil, France.<br /><searchLink fieldCode="AU" term="%22Carlier+RY%22">Carlier RY</searchLink>; AP-HP, GHU Paris-Saclay, DMU Smart Imaging, Medical Imaging Department, Raymond-Poincaré Teaching Hospital, Garches, France.; UMR 1179 End:Icap, UVSQ-Paris-Saclay University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Metay+C%22">Metay C</searchLink>; APHP, Centre de Génétique Moléculaire et Chromosomique, Service de Biochimie Métabolique, U. F de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Groupe Hospitalier La Pitié-Salpêtrière Charles Foix, Paris, France.; INSERM UMRS 974, Sorbonne University, Institute of Myology, Paris, France.<br /><searchLink fieldCode="AU" term="%22Malfatti+E%22">Malfatti E</searchLink>; University Paris Est Créteil, Inserm, U955, IMRB, Créteil, France.; Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, France.
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  Data: <searchLink fieldCode="JN" term="%227609829%22">Neuropathology and applied neurobiology</searchLink> [Neuropathol Appl Neurobiol] 2026 Apr; Vol. 52 (2), pp. e70067.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Blackwell+Scientific+Publications%22">Blackwell Scientific Publications </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>7609829 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1365-2990 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203051846%22">03051846 </searchLink><i>NLM ISO Abbreviation: </i>Neuropathol Appl Neurobiol <i>Subsets: </i>MEDLINE
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              Text: 2026 Apr
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