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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

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Title: The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Authors: Brooker SM; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Novelli M; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Coukos R; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Prakash N; Department of Neurology, University of Connecticut School of Medicine, Farmington, CT., Kamel WA; Department of Neurology, Beni Suef University, Beni Suef, Egypt., Amengual-Gual M; Department of Pediatrics, Pediatric Neurology, Hospital Universitario Son Espases, Palma, Spain., Anheim M; Department of Neurology, The University Hospitals of Strasbourg, Strasbourg, France.; University of Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Strasbourg, France.; University of Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, France., Barcia G; Universite Paris Cite, Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France., Bardakjian T; Department of Neurology, University of Pennsylvania, Philadelphia, PA., Baur F; Department of Pediatrics, University of Cologne, Köln, Germany.; Max-PlancInstitute for Biology of Ageing, Köln, Germany., Berweck S; Schon Klinik Vogtareuth, Specialist Centre for Paediatric Neurology, Neurorehabilitation, and Epileptology, Vogtareuth, Germany., Bölsterli BK; Department of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland.; University Children's Hospital Zurich, Children's Research Center, Zurich, Switzerland., Brugger M; Technical University of Munich School of Medicine and Health, Institute of Human Genetics, München, Germany.; Department of Obstetrics and Gynecology, Technical University of Munich Klinikum Rechts der Isar, München, Germany., Cassini T; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN., Chatron N; Department of Genetics, University Hospital Centre Lyon, Lyon, France., Corner B; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN., Dafsari HS; Department of Pediatrics, University of Cologne, Köln, Germany.; Max-PlancInstitute for Biology of Ageing, Köln, Germany., de Sainte Agathe JM; Department of Medical Genetics, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France., Ellis CA; Department of Neurology, University of Pennsylvania, Philadelphia, PA., Ezell KM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN., Foucard C; Department of Neurology, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France., Frucht SJ; Department of Neurology, NYU Grossman School of Medicine, New York, NY., Garcia MC; Department of Neurology, Movement Disorders Unit, Westmead Hospital, Westmead, New South Wales, Australia.; The University of Sydney, Sydney Medical School, Sydney, New South Wales, Australia., Gill D; TY Nelson Department of Neurology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Guimier A; Universite Paris Cite, Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France., Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN., Heine-Suñer D; Molecular Diagnostic and Clinical Genetics Department, Hospital Universitario Son Espases, Palma, Spain., Herkenrath P; Department of Pediatrics, University of Cologne, Köln, Germany., Hully M; Department of Pediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Isaias IU; Gaetano Pini-CTO, Parkinson Institute, Milan, Italy.; Department of Neurology, University Hospital Wurzburg, Wurzburg, Germany., Januel L; Department of Genetics, University Hospital Centre Lyon, Lyon, France.; Auragen laboratory, Plan France Medecine Génomique, Lyon, France., Laurencin C; Department of Neurology, Hospices Civils de Lyon, Lyon, France., Laut T; Department of Medical Genetics, University of Alberta, Faculty of Medicine and Dentistry, Edmonton, Alberta, Canada., Lavillaureix A; CHU de Rennes, Service de Génétique Médicale, Rennes, France., Lesca G; Department of Genetics, University Hospital Centre Lyon, Lyon, France., Lesieur-Sebellin M; Universite Paris Cite, Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France., Magistrelli L; Gaetano Pini-CTO, Parkinson Institute, Milan, Italy., Marelli C; Montpellier University, Expert Center for Neurogenetic Diseases, Montpellier, France., Mefford HC; Department of Cell and Molecular Biology St. Jude Children's Research Hospital, Center for Pediatric Neurological Disease Research, Memphis, TN., Mendelsohn BA; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA., Mercimek-Andrews S; Department of Medical Genetics, University of Alberta, Faculty of Medicine and Dentistry, Edmonton, Alberta, Canada., Miller C; Department of Neurology, NYU Grossman School of Medicine, New York, NY., Mohammad SS; The University of Sydney, Faculty of Medicine and Health, Sydney, New South Wales, Australia., Morgante F; City St. George's University of London, Neuroscience and Cell Biology Institute, London, UK., Nandipati S; Department of Neurology, Kaiser Permanente San Rafael Medical Center, San Rafael, CA., Opladen T; Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg, Germany., Padmanaban M; Department of Neurology, The University of Chicago, Chicago, IL., Pauni M; Department of Pediatrics, Neuropediatric Division, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina., Pezzoli G; Fondazione Grigioni per Il Morbo di Parkinson, Milan, Italy., Piton A; Department of Translational Medicine and Neurogenetics, University of Strasbourg, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Illkirch, France., Ramond F; Auragen laboratory, Plan France Medecine Génomique, Lyon, France.; Department of Medical Genetics, Saint Etienne University Hospital, Saint-Etienne, France., Riboldi GM; Department of Neurology, NYU Grossman School of Medicine, New York, NY., Rougeot-Jung C; Department of Pediatric Neurology, Hospices Civils de Lyon, Lyon, France., Santos-Simarro F; Molecular Diagnostic and Clinical Genetics Department, Hospital Universitario Son Espases, Palma, Spain., Scheffer IE; University of Melbourne, Austin Health and Royal Children's Hospital and Florey Neuroscience Institutes, Melbourne, Victoria, Australia., Serari N; Department of Neurology, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France., Stahl CM; Department of Neurology, NYU Grossman School of Medicine, New York, NY., Kung AS; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA., Tarongí Sanchez S; Department of Neurology, Hospital Universitario Son Espases, Palma, Spain., Thauvin-Robinet C; CHU Dijon, Centre de Genetique, Dijon, Spain., Till M; Department of Genetics, University Hospital Centre Lyon, Lyon, France., Tranchant C; Department of Neurology, The University Hospitals of Strasbourg, Strasbourg, France.; University of Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Strasbourg, France.; University of Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, France., Troedson C; TY Nelson Department of Neurology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Tropea TF; Department of Neurology, University of Pennsylvania, Philadelphia, PA.; Institute for Neurodegenerative Disorders, New Haven, CT., Vanakker O; Ghent University Hospital, Center for Medical Genetics, Ghent, Belgium., Vega P; Department of Pediatrics, Neuropediatric Division, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina., Wiese ML; Department of Pediatrics, University of Cologne, Köln, Germany.; Max-PlancInstitute for Biology of Ageing, Köln, Germany., Wieshmann U; Kingston and Richmond NHS Foundation Trust, Kingston upon Thames, UK., Williams LJ; Department of Neurology, Movement Disorders Unit, Westmead Hospital, Westmead, New South Wales, Australia., Wirth T; Department of Neurology, The University Hospitals of Strasbourg, Strasbourg, France.; University of Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Strasbourg, France.; University of Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, France., Zech M; Technical University of Munich School of Medicine and Health, Institute of Human Genetics, München, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.; Technical University of Munich, Institute for Advanced Study Garching, Munich, Germany., Zempel H; University Hospital Cologne, Institute for Human Genetics, Koln, Nordrhein-Westfalen, Germany., Roze E; Department of Neurology, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France., Leuzzi V; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Galosi S; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Fung VSC; Department of Neurology, Movement Disorders Unit, Westmead Hospital, Westmead, New South Wales, Australia., Carvill G; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Krainc D; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Gerard E; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Mencacci NE; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.
Source: Annals of neurology [Ann Neurol] 2025 Sep; Vol. 98 (3), pp. 561-572. Date of Electronic Publication: 2025 Jul 01.
Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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PubType: Academic Journal
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
– Name: Author
  Label: Authors
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  Data: <searchLink fieldCode="AU" term="%22Brooker+SM%22">Brooker SM</searchLink>; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.<br /><searchLink fieldCode="AU" term="%22Novelli+M%22">Novelli M</searchLink>; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Coukos+R%22">Coukos R</searchLink>; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.<br /><searchLink fieldCode="AU" term="%22Prakash+N%22">Prakash N</searchLink>; Department of Neurology, University of Connecticut School of Medicine, Farmington, CT.<br /><searchLink fieldCode="AU" term="%22Kamel+WA%22">Kamel WA</searchLink>; Department of Neurology, Beni Suef University, Beni Suef, Egypt.<br /><searchLink fieldCode="AU" term="%22Amengual-Gual+M%22">Amengual-Gual M</searchLink>; Department of Pediatrics, Pediatric Neurology, Hospital Universitario Son Espases, Palma, Spain.<br /><searchLink fieldCode="AU" term="%22Anheim+M%22">Anheim M</searchLink>; Department of Neurology, The University Hospitals of Strasbourg, Strasbourg, France.; University of Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Strasbourg, France.; University of Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Barcia+G%22">Barcia G</searchLink>; Universite Paris Cite, Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bardakjian+T%22">Bardakjian T</searchLink>; Department of Neurology, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Baur+F%22">Baur F</searchLink>; Department of Pediatrics, University of Cologne, Köln, Germany.; Max-PlancInstitute for Biology of Ageing, Köln, Germany.<br /><searchLink fieldCode="AU" term="%22Berweck+S%22">Berweck S</searchLink>; Schon Klinik Vogtareuth, Specialist Centre for Paediatric Neurology, Neurorehabilitation, and Epileptology, Vogtareuth, Germany.<br /><searchLink fieldCode="AU" term="%22Bölsterli+BK%22">Bölsterli BK</searchLink>; Department of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland.; University Children's Hospital Zurich, Children's Research Center, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Brugger+M%22">Brugger M</searchLink>; Technical University of Munich School of Medicine and Health, Institute of Human Genetics, München, Germany.; Department of Obstetrics and Gynecology, Technical University of Munich Klinikum Rechts der Isar, München, Germany.<br /><searchLink fieldCode="AU" term="%22Cassini+T%22">Cassini T</searchLink>; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN.<br /><searchLink fieldCode="AU" term="%22Chatron+N%22">Chatron N</searchLink>; Department of Genetics, University Hospital Centre Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Corner+B%22">Corner B</searchLink>; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN.<br /><searchLink fieldCode="AU" term="%22Dafsari+HS%22">Dafsari HS</searchLink>; Department of Pediatrics, University of Cologne, Köln, Germany.; Max-PlancInstitute for Biology of Ageing, Köln, Germany.<br /><searchLink fieldCode="AU" term="%22de+Sainte+Agathe+JM%22">de Sainte Agathe JM</searchLink>; Department of Medical Genetics, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ellis+CA%22">Ellis CA</searchLink>; Department of Neurology, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Ezell+KM%22">Ezell KM</searchLink>; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN.<br /><searchLink fieldCode="AU" term="%22Foucard+C%22">Foucard C</searchLink>; Department of Neurology, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France.<br /><searchLink fieldCode="AU" term="%22Frucht+SJ%22">Frucht SJ</searchLink>; Department of Neurology, NYU Grossman School of Medicine, New York, NY.<br /><searchLink fieldCode="AU" term="%22Garcia+MC%22">Garcia MC</searchLink>; Department of Neurology, Movement Disorders Unit, Westmead Hospital, Westmead, New South Wales, Australia.; The University of Sydney, Sydney Medical School, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Gill+D%22">Gill D</searchLink>; TY Nelson Department of Neurology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Guimier+A%22">Guimier A</searchLink>; Universite Paris Cite, Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hamid+R%22">Hamid R</searchLink>; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN.<br /><searchLink fieldCode="AU" term="%22Heine-Suñer+D%22">Heine-Suñer D</searchLink>; Molecular Diagnostic and Clinical Genetics Department, Hospital Universitario Son Espases, Palma, Spain.<br /><searchLink fieldCode="AU" term="%22Herkenrath+P%22">Herkenrath P</searchLink>; Department of Pediatrics, University of Cologne, Köln, Germany.<br /><searchLink fieldCode="AU" term="%22Hully+M%22">Hully M</searchLink>; Department of Pediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Isaias+IU%22">Isaias IU</searchLink>; Gaetano Pini-CTO, Parkinson Institute, Milan, Italy.; Department of Neurology, University Hospital Wurzburg, Wurzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Januel+L%22">Januel L</searchLink>; Department of Genetics, University Hospital Centre Lyon, Lyon, France.; Auragen laboratory, Plan France Medecine Génomique, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Laurencin+C%22">Laurencin C</searchLink>; Department of Neurology, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Laut+T%22">Laut T</searchLink>; Department of Medical Genetics, University of Alberta, Faculty of Medicine and Dentistry, Edmonton, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Lavillaureix+A%22">Lavillaureix A</searchLink>; CHU de Rennes, Service de Génétique Médicale, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Department of Genetics, University Hospital Centre Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Lesieur-Sebellin+M%22">Lesieur-Sebellin M</searchLink>; Universite Paris Cite, Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Magistrelli+L%22">Magistrelli L</searchLink>; Gaetano Pini-CTO, Parkinson Institute, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Marelli+C%22">Marelli C</searchLink>; Montpellier University, Expert Center for Neurogenetic Diseases, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Mefford+HC%22">Mefford HC</searchLink>; Department of Cell and Molecular Biology St. Jude Children's Research Hospital, Center for Pediatric Neurological Disease Research, Memphis, TN.<br /><searchLink fieldCode="AU" term="%22Mendelsohn+BA%22">Mendelsohn BA</searchLink>; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA.<br /><searchLink fieldCode="AU" term="%22Mercimek-Andrews+S%22">Mercimek-Andrews S</searchLink>; Department of Medical Genetics, University of Alberta, Faculty of Medicine and Dentistry, Edmonton, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Miller+C%22">Miller C</searchLink>; Department of Neurology, NYU Grossman School of Medicine, New York, NY.<br /><searchLink fieldCode="AU" term="%22Mohammad+SS%22">Mohammad SS</searchLink>; The University of Sydney, Faculty of Medicine and Health, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Morgante+F%22">Morgante F</searchLink>; City St. George's University of London, Neuroscience and Cell Biology Institute, London, UK.<br /><searchLink fieldCode="AU" term="%22Nandipati+S%22">Nandipati S</searchLink>; Department of Neurology, Kaiser Permanente San Rafael Medical Center, San Rafael, CA.<br /><searchLink fieldCode="AU" term="%22Opladen+T%22">Opladen T</searchLink>; Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Padmanaban+M%22">Padmanaban M</searchLink>; Department of Neurology, The University of Chicago, Chicago, IL.<br /><searchLink fieldCode="AU" term="%22Pauni+M%22">Pauni M</searchLink>; Department of Pediatrics, Neuropediatric Division, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Pezzoli+G%22">Pezzoli G</searchLink>; Fondazione Grigioni per Il Morbo di Parkinson, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Piton+A%22">Piton A</searchLink>; Department of Translational Medicine and Neurogenetics, University of Strasbourg, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Ramond+F%22">Ramond F</searchLink>; Auragen laboratory, Plan France Medecine Génomique, Lyon, France.; Department of Medical Genetics, Saint Etienne University Hospital, Saint-Etienne, France.<br /><searchLink fieldCode="AU" term="%22Riboldi+GM%22">Riboldi GM</searchLink>; Department of Neurology, NYU Grossman School of Medicine, New York, NY.<br /><searchLink fieldCode="AU" term="%22Rougeot-Jung+C%22">Rougeot-Jung C</searchLink>; Department of Pediatric Neurology, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Santos-Simarro+F%22">Santos-Simarro F</searchLink>; Molecular Diagnostic and Clinical Genetics Department, Hospital Universitario Son Espases, Palma, Spain.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; University of Melbourne, Austin Health and Royal Children's Hospital and Florey Neuroscience Institutes, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Serari+N%22">Serari N</searchLink>; Department of Neurology, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France.<br /><searchLink fieldCode="AU" term="%22Stahl+CM%22">Stahl CM</searchLink>; Department of Neurology, NYU Grossman School of Medicine, New York, NY.<br /><searchLink fieldCode="AU" term="%22Kung+AS%22">Kung AS</searchLink>; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA.<br /><searchLink fieldCode="AU" term="%22Tarongí+Sanchez+S%22">Tarongí Sanchez S</searchLink>; Department of Neurology, Hospital Universitario Son Espases, Palma, Spain.<br /><searchLink fieldCode="AU" term="%22Thauvin-Robinet+C%22">Thauvin-Robinet C</searchLink>; CHU Dijon, Centre de Genetique, Dijon, Spain.<br /><searchLink fieldCode="AU" term="%22Till+M%22">Till M</searchLink>; Department of Genetics, University Hospital Centre Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Tranchant+C%22">Tranchant C</searchLink>; Department of Neurology, The University Hospitals of Strasbourg, Strasbourg, France.; University of Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Strasbourg, France.; University of Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Troedson+C%22">Troedson C</searchLink>; TY Nelson Department of Neurology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Tropea+TF%22">Tropea TF</searchLink>; Department of Neurology, University of Pennsylvania, Philadelphia, PA.; Institute for Neurodegenerative Disorders, New Haven, CT.<br /><searchLink fieldCode="AU" term="%22Vanakker+O%22">Vanakker O</searchLink>; Ghent University Hospital, Center for Medical Genetics, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Vega+P%22">Vega P</searchLink>; Department of Pediatrics, Neuropediatric Division, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Wiese+ML%22">Wiese ML</searchLink>; Department of Pediatrics, University of Cologne, Köln, Germany.; Max-PlancInstitute for Biology of Ageing, Köln, Germany.<br /><searchLink fieldCode="AU" term="%22Wieshmann+U%22">Wieshmann U</searchLink>; Kingston and Richmond NHS Foundation Trust, Kingston upon Thames, UK.<br /><searchLink fieldCode="AU" term="%22Williams+LJ%22">Williams LJ</searchLink>; Department of Neurology, Movement Disorders Unit, Westmead Hospital, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Wirth+T%22">Wirth T</searchLink>; Department of Neurology, The University Hospitals of Strasbourg, Strasbourg, France.; University of Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Strasbourg, France.; University of Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Zech+M%22">Zech M</searchLink>; Technical University of Munich School of Medicine and Health, Institute of Human Genetics, München, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.; Technical University of Munich, Institute for Advanced Study Garching, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Zempel+H%22">Zempel H</searchLink>; University Hospital Cologne, Institute for Human Genetics, Koln, Nordrhein-Westfalen, Germany.<br /><searchLink fieldCode="AU" term="%22Roze+E%22">Roze E</searchLink>; Department of Neurology, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France.<br /><searchLink fieldCode="AU" term="%22Leuzzi+V%22">Leuzzi V</searchLink>; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Galosi+S%22">Galosi S</searchLink>; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Fung+VSC%22">Fung VSC</searchLink>; Department of Neurology, Movement Disorders Unit, Westmead Hospital, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Carvill+G%22">Carvill G</searchLink>; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.<br /><searchLink fieldCode="AU" term="%22Krainc+D%22">Krainc D</searchLink>; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.<br /><searchLink fieldCode="AU" term="%22Gerard+E%22">Gerard E</searchLink>; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.<br /><searchLink fieldCode="AU" term="%22Mencacci+NE%22">Mencacci NE</searchLink>; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.
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      – TitleFull: The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
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          Dates:
            – D: 01
              M: 09
              Text: 2025 Sep
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1531-8249
          Numbering:
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              Value: 98
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Annals of neurology
              Type: main
ResultId 1