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A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

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Title: A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
Authors: Budhdeo S; Department for Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., de Paiva ARB; Neurology Department, Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Neurology Department, Hospital São Rafael-Rede D'Or São Luiz, Salvador, Brazil., Wade C; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Lopes LCG; Department of Neurology, Psychology and Psychiatry, Universidade Estadual de São Paulo (UNESP), Botucatu, SP, Brazil., Della-Ripa B; Neurology Department, Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Davagnanam I; Lysholm Department of Neuroradiology, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Lucato L; Diagnostic Neuroradiology Section, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Mummery CJ; Dementia Research Centre, Department of Neurodegenerative Disease, National Hospital for Neurology and Neurosurgery, London, UK., Kok F; Neurology Department, Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Mendelics Genomic Analysis, São Paulo, Brazil., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK., Werring DJ; Stroke Research Centre, UCL Queen Square Institute of Neurology, London, UK., Lynch DS; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. david.lynch.13@ucl.ac.uk.; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK. david.lynch.13@ucl.ac.uk.
Source: Journal of neurology [J Neurol] 2022 Dec; Vol. 269 (12), pp. 6673-6677. Date of Electronic Publication: 2022 Jul 29.
Publication Type: Case Reports; Letter
Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
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  Data: <searchLink fieldCode="AU" term="%22Budhdeo+S%22">Budhdeo S</searchLink>; Department for Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.<br /><searchLink fieldCode="AU" term="%22de+Paiva+ARB%22">de Paiva ARB</searchLink>; Neurology Department, Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Neurology Department, Hospital São Rafael-Rede D'Or São Luiz, Salvador, Brazil.<br /><searchLink fieldCode="AU" term="%22Wade+C%22">Wade C</searchLink>; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.<br /><searchLink fieldCode="AU" term="%22Lopes+LCG%22">Lopes LCG</searchLink>; Department of Neurology, Psychology and Psychiatry, Universidade Estadual de São Paulo (UNESP), Botucatu, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Della-Ripa+B%22">Della-Ripa B</searchLink>; Neurology Department, Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Davagnanam+I%22">Davagnanam I</searchLink>; Lysholm Department of Neuroradiology, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.<br /><searchLink fieldCode="AU" term="%22Lucato+L%22">Lucato L</searchLink>; Diagnostic Neuroradiology Section, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Mummery+CJ%22">Mummery CJ</searchLink>; Dementia Research Centre, Department of Neurodegenerative Disease, National Hospital for Neurology and Neurosurgery, London, UK.<br /><searchLink fieldCode="AU" term="%22Kok+F%22">Kok F</searchLink>; Neurology Department, Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Mendelics Genomic Analysis, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Werring+DJ%22">Werring DJ</searchLink>; Stroke Research Centre, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Lynch+DS%22">Lynch DS</searchLink>; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. david.lynch.13@ucl.ac.uk.; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK. david.lynch.13@ucl.ac.uk.
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  Data: <searchLink fieldCode="JN" term="%220423161%22">Journal of neurology</searchLink> [J Neurol] 2022 Dec; Vol. 269 (12), pp. 6673-6677. <i>Date of Electronic Publication: </i>2022 Jul 29.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag%22">Springer-Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>0423161 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1459 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203405354%22">03405354 </searchLink><i>NLM ISO Abbreviation: </i>J Neurol <i>Subsets: </i>MEDLINE
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              Text: 2022 Dec
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