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Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

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Title: Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.
Authors: Trilla P; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, C/Villarroel 170, Barcelona, 08036, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Rodriguez-Revenga L; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, C/Villarroel 170, Barcelona, 08036, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Sanchez A; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, C/Villarroel 170, Barcelona, 08036, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Madrigal I; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, C/Villarroel 170, Barcelona, 08036, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Milisenda JC; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Department of Internal Medicine, Hospital Clínic of Barcelona, Barcelona, Spain.; Inherited Metabolic Diseases and Muscle Disorder's Lab, Cellex - IDIBAPS, Faculty of Medicine and Health Science, University of Barcelona (UB), Barcelona, Spain., Muñoz E; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; Parkinson's Disease and Movement Disorders Unit, Neurology Service, European Reference Network-Rare Neurological Diseases (ERN-RND), Institut Clínic de Neurociències, Hospital Clínic of Barcelona, University of Barcelona, Barcelona, Spain., Alvarez-Mora MI; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, C/Villarroel 170, Barcelona, 08036, Spain. mialvarez@clinic.cat.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain. mialvarez@clinic.cat.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. mialvarez@clinic.cat.
Source: Cellular and molecular neurobiology [Cell Mol Neurobiol] 2026 Feb 27; Vol. 46 (1). Date of Electronic Publication: 2026 Feb 27.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8200709 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-6830 (Electronic) Linking ISSN: 02724340 NLM ISO Abbreviation: Cell Mol Neurobiol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.
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  Data: <searchLink fieldCode="AU" term="%22Trilla+P%22">Trilla P</searchLink>; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, C/Villarroel 170, Barcelona, 08036, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Rodriguez-Revenga+L%22">Rodriguez-Revenga L</searchLink>; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, C/Villarroel 170, Barcelona, 08036, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Sanchez+A%22">Sanchez A</searchLink>; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, C/Villarroel 170, Barcelona, 08036, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Madrigal+I%22">Madrigal I</searchLink>; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, C/Villarroel 170, Barcelona, 08036, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Milisenda+JC%22">Milisenda JC</searchLink>; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Department of Internal Medicine, Hospital Clínic of Barcelona, Barcelona, Spain.; Inherited Metabolic Diseases and Muscle Disorder's Lab, Cellex - IDIBAPS, Faculty of Medicine and Health Science, University of Barcelona (UB), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Muñoz+E%22">Muñoz E</searchLink>; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; Parkinson's Disease and Movement Disorders Unit, Neurology Service, European Reference Network-Rare Neurological Diseases (ERN-RND), Institut Clínic de Neurociències, Hospital Clínic of Barcelona, University of Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Alvarez-Mora+MI%22">Alvarez-Mora MI</searchLink>; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, C/Villarroel 170, Barcelona, 08036, Spain. mialvarez@clinic.cat.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain. mialvarez@clinic.cat.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. mialvarez@clinic.cat.
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  Data: <searchLink fieldCode="JN" term="%228200709%22">Cellular and molecular neurobiology</searchLink> [Cell Mol Neurobiol] 2026 Feb 27; Vol. 46 (1). <i>Date of Electronic Publication: </i>2026 Feb 27.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>8200709 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-6830 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2202724340%22">02724340 </searchLink><i>NLM ISO Abbreviation: </i>Cell Mol Neurobiol <i>Subsets: </i>MEDLINE
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              Text: 2026 Feb 27
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