المؤلفون: G S B Lima PL; Faculty of Medicine, Federal University of Ceara, Fortaleza, Ceara, Brazil., Nobrega PR; Division of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil.; Centro Universitário Christus, Fortaleza, Ceara, Brazil., Freua F; Neurogenetics Center, Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil., Braga-Neto P; Division of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil., Paiva ARB; Neurogenetics Center, Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil., Guimarães TG; Movement Disorders Center, Department of Neurology, University of Sao Paulo, Av. Dr. Eneas de Carvalho Aguiar, 255, 5th Floor, Room 5084, Cerqueira Cesar, Sao Paulo, Sao Paulo, 05403-900, Brazil. thiagogguimaraesneurologia@gmail.com., Kok F; Neurogenetics Center, Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil.

المصدر: BMC neurology [BMC Neurol] 2024 May 23; Vol. 24 (1), pp. 169. Date of Electronic Publication: 2024 May 23.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Myoclonic Epilepsies, Progressive*/complications , Myoclonic Epilepsies, Progressive*/diagnosis , Seizures*/diagnosis , Seizures*/complications , Seizures*/etiology , Seizures*/drug therapy, Humans ; Myoclonus/diagnosis ; Myoclonus/etiology ; Myoclonus/complications ; Myoclonus/drug therapy ; Male ; Shaw Potassium Channels/genetics ; Female ; Electroencephalography/methods

المؤلفون: Nóbrega PR; Department of Neurology, Faculdade de Medicina, Universidade Federal do Ceará, R. Alexandre Baraúna, 949, Rodolfo Teófilo, Fortaleza, CE, 60430-160, Brazil. paulo_r_med@yahoo.com.br.; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), Av. Dr. Arnaldo, 455, Cerqueira César, Pacaembu, São Paulo, 01246-903, Brazil. paulo_r_med@yahoo.com.br.; Faculty of Medicine, Unichristus University, Rua Vereador Paulo Mamede, 131, Fortaleza, CE, 60160-196, Brazil. paulo_r_med@yahoo.com.br., de Brito de Souza JL; Center of Health Sciences, Universidade Estadual do Ceará, Av. Dr. Silas Munguba, 1700, Itaperi, Fortaleza, CE, 60714-903, Brazil., Maurício RB; Center of Health Sciences, Universidade Estadual do Ceará, Av. Dr. Silas Munguba, 1700, Itaperi, Fortaleza, CE, 60714-903, Brazil., de Paiva ARB; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), Av. Dr. Arnaldo, 455, Cerqueira César, Pacaembu, São Paulo, 01246-903, Brazil.; Mendelics Genomic Analysis, Av. Braz Leme, 1631, Casa Verde, São Paulo, SP, 02511-000, Brazil., Dias DA; Department of Radiology, Faculdade de Medicina da Universidade Federal do Ceará, R. Alexandre Baraúna, 949, Rodolfo Teófilo, Fortaleza, CE, 60430-160, Brazil., Camelo CG; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), Av. Dr. Arnaldo, 455, Cerqueira César, Pacaembu, São Paulo, 01246-903, Brazil., Zanotelli E; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), Av. Dr. Arnaldo, 455, Cerqueira César, Pacaembu, São Paulo, 01246-903, Brazil., Schlesinger D; Mendelics Genomic Analysis, Av. Braz Leme, 1631, Casa Verde, São Paulo, SP, 02511-000, Brazil., Braga-Neto P; Department of Neurology, Faculdade de Medicina, Universidade Federal do Ceará, R. Alexandre Baraúna, 949, Rodolfo Teófilo, Fortaleza, CE, 60430-160, Brazil.; Center of Health Sciences, Universidade Estadual do Ceará, Av. Dr. Silas Munguba, 1700, Itaperi, Fortaleza, CE, 60714-903, Brazil., Moreno CAM; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), Av. Dr. Arnaldo, 455, Cerqueira César, Pacaembu, São Paulo, 01246-903, Brazil.; Mendelics Genomic Analysis, Av. Braz Leme, 1631, Casa Verde, São Paulo, SP, 02511-000, Brazil.

المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Mar; Vol. 45 (3), pp. 1225-1231. Date of Electronic Publication: 2023 Oct 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Myopathies, Nemaline*/genetics , Myopathies, Nemaline*/pathology , Autism Spectrum Disorder*, Humans ; Muscle, Skeletal/pathology ; Muscle Proteins/genetics ; Muscle Proteins/metabolism ; Central Nervous System ; Mutation

المؤلفون: Nóbrega PR; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.; Centro Universitário Unichristus, Fortaleza, Brazil., Vasconcelos TMF; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil., de Paiva ARB; Neurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Brazil., Lima PLGSB; Faculty of Medicine, Federal University of Ceara, Fortaleza, Brazil., Braga Neto P; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil., Guimarães TG; Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Brazil., Krueger MB; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.; Hospital Infantil Albert Sabin, Fortaleza, Brazil.

المصدر: Movement disorders clinical practice [Mov Disord Clin Pract] 2023 Oct 11; Vol. 10 (11), pp. 1705-1706. Date of Electronic Publication: 2023 Oct 11 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: eCollection Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: PubMed not MEDLINE

المؤلفون: Oliveira DA; Department of Neurology, Hospital das Clínicas UFPE / EBSERH, Recife, Brazil daniel_oliveira_@live.com., Araújo LC; Department of Radiology, Hospital das Clínicas UFPE / EBSERH, Recife, Brazil., Paiva ARB; Neurogenetics Unit, Neurology Department, Universidade de São Paulo Hospital das Clínicas, Sao Paulo, Brazil.; Rare diseases department, Mendelics Genomic Analysis, Sao Paulo, Brazil., Melo ES; Department of Neurology, Hospital das Clínicas UFPE / EBSERH, Recife, Brazil.; Neurology, Universidade Federal de Pernambuco, Recife, Brazil.

المصدر: Practical neurology [Pract Neurol] 2023 Oct; Vol. 23 (5), pp. 414-417. Date of Electronic Publication: 2023 Jul 20.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101130961 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-7766 (Electronic) Linking ISSN: 14747758 NLM ISO Abbreviation: Pract Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Alexander Disease*/complications , Alexander Disease*/diagnostic imaging , Alexander Disease*/genetics , Cervical Cord*/pathology, Male ; Humans ; Adult ; Glial Fibrillary Acidic Protein/genetics ; Brain Stem/diagnostic imaging ; Brain Stem/pathology ; Magnetic Resonance Imaging/methods

المؤلفون: Paiva ARB; Mendelics Genomic Analysis, São Paulo, SP, Brazil arbrandaopaiva@gmail.com.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Neurology Department, Hospital São Rafael - Rede D'or São Luiz, Salvador, BA, Brazil., Pessoa ALS; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil.; Universidade Estadual do Ceara, Fortaleza, CE, Brazil., Nóbrega PR; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Neurology Department, Universidade Federal do Ceará, Fortaleza, CE, Brazil., Moreno CAM; Mendelics Genomic Analysis, São Paulo, SP, Brazil.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Lynch DS; Department of Neurogenetics, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Taniguti LM; Mendelics Genomic Analysis, São Paulo, SP, Brazil., Kitajima JP; Mendelics Genomic Analysis, São Paulo, SP, Brazil., Freua F; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Neurology Department, Beneficência Portuguesa de São Paulo, São Paulo, SP, Brazil., Della-Ripa B; Mendelics Genomic Analysis, São Paulo, SP, Brazil.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Cunha P; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Institut du Cerveau (ICM), APHP, Pitié Salpêtrière Hospital, Paris, France., Peixoto de Barcelos I; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Macedo-Souza LI; Centro de Estudos do Genoma Humano, Universidade de São Paulo, Sao Paulo, SP, Brazil., Takeuchi CA; Sabará Hospital Infantil, São Paulo, SP, Brazil., Garcia AMS; Hospital Regional Dom Moura, Garanhuns, PE, Brazil., Nardes F; Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil., Fontão R; Neuropediatrics, Penna Hospital, Bahía Blanca, Buenos Aires, Argentina., Antoniuk SA; Universidade Federal do Paraná, Curitiba, PR, Brazil., Troncoso M; Pediatric Neurology Department, Hospital Clínico San Borja Arriarán, University of Chile, Santiago, Chile., Spécola N; Hospital de Niños Sor María Ludovica, La Plata, Argentina., Durand C; Laboratorio de Neuroquímica Dr. N.A. Chamoles, Buenos Aires, Argentina., Madeiro BACS; Hospital Universitário Oswaldo Cruz, Universidade de Pernambuco, Recife, PE, Brazil., Doriqui MJR; Public Health Department, Universidade Federal do Maranhão, São Luís, MA, Brazil., Vergara D; Pediatric Neurology Department, Hospital Clínico San Borja Arriarán, University of Chile, Santiago, Chile., Houlden H; Department of Neurogenetics, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Kok F; Mendelics Genomic Analysis, São Paulo, SP, Brazil.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.

المصدر: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2023 May; Vol. 94 (5), pp. 405-408. Date of Electronic Publication: 2023 Feb 03.

نوع المنشور: Letter

بيانات الدورية: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-330X (Electronic) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Brain*/pathology , Neuronal Ceroid-Lipofuscinoses*/genetics , Neuronal Ceroid-Lipofuscinoses*/pathology, Humans ; Phenotype

المؤلفون: Nóbrega PR; Division of Neurology, Department of Clinical Medicine, Faculty of Medicine, Universidade Federal do Ceará, Fortaleza, Brazil.; Neurogenetics Unit, Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil., Morais JLA; UNICHRISTUS University Center, Ceará, Brazil., Ferreira AM; Neurology Department, Hospital Geral de Fortaleza, Ceará, Brazil.; Department of Clinical Medicine, Universidade de Fortaleza, Ceará, Brazil., de Medeiros AD; UNICHRISTUS University Center, Ceará, Brazil.; Neurology Department, Hospital Geral de Fortaleza, Ceará, Brazil., Duarte BA; UNICHRISTUS University Center, Ceará, Brazil., Rangel DM; Division of Neurology, Department of Clinical Medicine, Faculty of Medicine, Universidade Federal do Ceará, Fortaleza, Brazil.; Neurology Department, Hospital Geral de Fortaleza, Ceará, Brazil., Lima FO; Neurology Department, Hospital Geral de Fortaleza, Ceará, Brazil., de Paiva ARB; Neurogenetics Unit, Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil., Paim-Marques L; Department of Clinical Medicine, Universidade de Fortaleza, Ceará, Brazil., Kok F; Neurogenetics Unit, Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil.; Mendelics Genomic Analysis, São Paulo, Brazil., Pessoa ALS; Hospital Infantil Albert Sabin, Ceará, Brazil., Braga-Neto P; Division of Neurology, Department of Clinical Medicine, Faculty of Medicine, Universidade Federal do Ceará, Fortaleza, Brazil. pbraganeto@ufc.br.; Center of Health Sciences, Universidade Estadual do Ceará, Fortaleza, Brazil. pbraganeto@ufc.br., Carvalho FMM; Neurology Department, Hospital Geral de Fortaleza, Ceará, Brazil.; Department of Clinical Medicine, Universidade de Fortaleza, Ceará, Brazil.

المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Jan; Vol. 44 (1), pp. 319-327. Date of Electronic Publication: 2022 Sep 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Fabry Disease*/complications , Fabry Disease*/drug therapy , Fabry Disease*/genetics , Meningitis, Aseptic*/etiology, Female ; Humans ; Prospective Studies ; Phenotype ; Headache/complications ; Mutation

المؤلفون: 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.

المصدر: Journal of neurology [J Neurol] 2022 Dec; Vol. 269 (12), pp. 6673-6677. Date of Electronic Publication: 2022 Jul 29.

نوع المنشور: Case Reports; Letter

بيانات الدورية: 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

مواضيع طبية MeSH: Brain Ischemia*/complications , Brain Ischemia*/diagnostic imaging , Brain Ischemia*/genetics , CADASIL*/complications , CADASIL*/diagnostic imaging , CADASIL*/genetics , Cerebral Small Vessel Diseases*/complications , Cerebral Small Vessel Diseases*/diagnostic imaging , Cerebral Small Vessel Diseases*/genetics , Deglutition Disorders* , Leukoencephalopathies*/complications , Leukoencephalopathies*/diagnostic imaging , Leukoencephalopathies*/genetics , Stroke*/complications , Stroke*/diagnostic imaging , Tinnitus*, Female ; Humans ; Male ; Cathepsin A/genetics ; Magnetic Resonance Imaging

المؤلفون: Nóbrega PR; Division of Neurology, Department of Clinical Medicine, Universidade Federal do Ceará, Fortaleza, Brazil.; Neurogenetics Unit, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, Brazil., Castro MAA; Neurogenetics Unit, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, Brazil.; Mendelics Genomic Analysis, São Paulo, Brazil., de Paiva ARB; Mendelics Genomic Analysis, São Paulo, Brazil.; Neurology Department, Hospital São Rafael-Rede D'Or São Luiz, Salvador, Brazil., Kok F; Neurogenetics Unit, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, Brazil.; Mendelics Genomic Analysis, São Paulo, Brazil.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3567-3568. Date of Electronic Publication: 2022 Sep 30.

نوع المنشور: Letter

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/diagnosis , Abnormalities, Multiple*/genetics , Intellectual Disability*, Humans ; Muscle Hypotonia ; Seizures

SCR Disease Name: Light Fixation Seizure Syndrome

المؤلفون: Nóbrega PR; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Rua Prof. Costa Mendes, 1608 - 4° andar - Rodolfo Teófilo, Fortaleza, Ceará, Brazil., da Costa FBS; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Rua Prof. Costa Mendes, 1608 - 4° andar - Rodolfo Teófilo, Fortaleza, Ceará, Brazil., Rodrigues PGB; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Rua Prof. Costa Mendes, 1608 - 4° andar - Rodolfo Teófilo, Fortaleza, Ceará, Brazil., de Maria Frota Vasconcelos T; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Rua Prof. Costa Mendes, 1608 - 4° andar - Rodolfo Teófilo, Fortaleza, Ceará, Brazil., Soares DMB; Center of Health Sciences, Ceará State University, Fortaleza, Brazil., Araújo JS; Division of Endocrinology and Metabology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil., Dias DA; Division of Radiology, Federal University of Ceará, Fortaleza, Brazil., Sobreira-Neto MA; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Rua Prof. Costa Mendes, 1608 - 4° andar - Rodolfo Teófilo, Fortaleza, Ceará, Brazil., de Paiva ARB; Department of Neurology, São Rafael Hospital, Rede D'Or São Luiz, Salvador, Brazil.; Department of Neurology, Clinics Hospital of the University of São Paulo Medical School, São Paulo, Brazil., Braga-Neto P; Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Rua Prof. Costa Mendes, 1608 - 4° andar - Rodolfo Teófilo, Fortaleza, Ceará, Brazil. pbraganeto@ufc.br.; Center of Health Sciences, Ceará State University, Fortaleza, Brazil. pbraganeto@ufc.br., Kok F; Department of Neurology, Clinics Hospital of the University of São Paulo Medical School, São Paulo, Brazil.; Mendelics Genomic Analysis, São Paulo, Brazil., Fontenele EGP; Division of Endocrinology and Metabology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.

المصدر: BMC neurology [BMC Neurol] 2022 Oct 08; Vol. 22 (1), pp. 381. Date of Electronic Publication: 2022 Oct 08.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Moyamoya Disease*/complications , Moyamoya Disease*/diagnostic imaging , Spinocerebellar Ataxias*/complications , Spinocerebellar Ataxias*/diagnostic imaging , Spinocerebellar Ataxias*/genetics , Turner Syndrome*/complications, Adult ; Constriction, Pathologic ; Female ; Humans

SCR Disease Name: Moyamoya disease 1

المؤلفون: Freua F; Neurogenetics Outpatient, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil;; fernando.freua@usp.br., Almeida MEC; Neurogenetics Outpatient, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Nóbrega PR; Neurogenetics Outpatient, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Paiva ARB; Neurogenetics Outpatient, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Della-Ripa B; Neurogenetics Outpatient, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Cunha P; Neurogenetics Outpatient, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Macedo-Souza LI; Neurogenetics Outpatient, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Bueno C; Neurogenetics Outpatient, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Lynch DS; Department of Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, UK., Houlden H; Department of Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, UK., Lucato LT; Department of Radiology, Hospital das Clínicas da Faculdade de Medicina da Universidade de Sáo Paulo, Sáo Paulo, Brazil;, Kok F; Neurogenetics Outpatient, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de Sáo Paulo, Sáo Paulo, Brazil.

المصدر: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2022 Sep 30. Date of Electronic Publication: 2022 Sep 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE