학술논문


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'학술논문' 에서 검색결과 296건 | 목록 1~20
Academic Journal
Fernández-Marmiesse A; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Galicia, Spain. amarmiesse@gmail.com.; Pérez-Poyato MS; Pediatric Neurology Unit, Department of Pediatrics, Marqués de Valdecilla University Hospital, Santander, Cantabria, Spain.; Fontalba A; Department of Genetics, Marqués de Valdecilla University Hospital, Santander, Cantabria, Spain.; Marco de Lucas E; Department of Radiology, Marqués de Valdecilla University Hospital, Santander, Cantabria, Spain.; Martínez MT; Department of Genetics, Marqués de Valdecilla University Hospital, Santander, Cantabria, Spain.; Cabero Pérez MJ; Pediatric Neurology Unit, Department of Pediatrics, Marqués de Valdecilla University Hospital, Santander, Cantabria, Spain.; Couce ML; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Galicia, Spain.
Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE
Academic Journal
Panadés-de Oliveira L; Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain. lupanades@gmail.com.; Rodríguez-López C; Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Cantero Montenegro D; Department of Neuropathology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Marcos Toledano MDM; Department of Neurology, Hospital Universitario de Badajoz, Badajoz, Spain.; Fernández-Marmiesse A; Centro de Investigación en Enfermedades Crónicas (CIMUS)-Grupo de Genomas y Enfermedad P2L9, Universidad de Santiago de Compostela, Santiago de Compostela, Spain.; Esteban Pérez J; Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Hernández Lain A; Department of Neuropathology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Domínguez-González C; Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, Madrid, Spain.; Instituto de investigación i+12, Madrid, Spain.
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
Academic Journal
Negrão L; Neuromuscular Disease Unit, Neurology Department, Coimbra University and Hospital Centre, Coimbra, Portugal.; Machado R; Neuromuscular Disease Unit, Neurology Department, Coimbra University and Hospital Centre, Coimbra, Portugal.; Lourenço M; Neurology Department, Hospital de Santo Espírito da Ilha Terceira, Angra do Heroísmo, Portugal.; Fernandez-Marmiesse A; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Spain.; Genomes & Disease Group, Molecular Medicine and Chronic Diseases Research Centre (CiMUS), Santiago de Compostela University - IDIS, Santiago de Compostela, Spain.; Rebelo O; Neuromuscular Disease Unit, Neurology Department, Coimbra University and Hospital Centre, Coimbra, Portugal.
Publisher: Gaetano Conte Academy Country of Publication: Italy NLM ID: 9811169 Publication Model: eCollection Cited Medium: Internet ISSN: 2532-1900 (Electronic) Linking ISSN: 11282460 NLM ISO Abbreviation: Acta Myol Subsets: MEDLINE
Academic Journal
Fernández-Marmiesse A; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Galicia, Spain.; Centro de Investigación Biomédica de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Kusumoto H; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.; Rekarte S; Unit of Child Neurology, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús de Madrid, Madrid, Spain.; Roca I; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Galicia, Spain.; Centro de Investigación Biomédica de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Zhang J; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.; Department of Neurology, the First Hospital of Shanxi Medical University, Taiyuan, China.; Myers SJ; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Traynelis SF; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Couce ML; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Galicia, Spain.; Centro de Investigación Biomédica de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Gutierrez-Solana L; Unit of Child Neurology, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús de Madrid, Madrid, Spain.; Yuan H; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Editorial & Opinion
Alcahut-Rodríguez C; Servicio de Neurología, Hospital Universitario de Albacete, Albacete, España. Electronic address: CristianAlcahut@gmail.com.; Díaz-Maroto I; Servicio de Neurología, Hospital Universitario de Albacete, Albacete, España.; Fernández-Marmiesse A; Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, La Coruña, España.; García-García J; Servicio de Neurología, Hospital Universitario de Albacete, Albacete, España.
Publisher: Elsevier España Country of Publication: Spain NLM ID: 101778590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2173-5808 (Electronic) Linking ISSN: 21735808 NLM ISO Abbreviation: Neurologia (Engl Ed) Subsets: MEDLINE
Academic Journal
Almendra L; Consulta de Doenças Neuromusculares, Centro Hospitalar e Universitário de Coimbra, Praceta Mota Pinto, 3000-075 Coimbra, Portugal.; Laranjeira F; Centro de Genética Clínica, Centro Hospitalar do Porto.; Fernández-Marmiesse A; Unidad de Diagnóstico y Tratamiento de Enfermidades Metabolicas Congénitas (UDyTEMC), Hospital Clínico Universitário de Santiago de Compostela.; Negrão L; Consulta de Doenças Neuromusculares, Centro Hospitalar e Universitário de Coimbra, Praceta Mota Pinto, 3000-075 Coimbra, Portugal.
Publisher: Gaetano Conte Academy Country of Publication: Italy NLM ID: 9811169 Publication Model: eCollection Cited Medium: Internet ISSN: 2532-1900 (Electronic) Linking ISSN: 11282460 NLM ISO Abbreviation: Acta Myol Subsets: MEDLINE
Report
De Fuenmayor-Fernández De La Hoz CP; Servicio de Neurología, Hospital Universitario 12 de Octubre, Madrid, Spain.; Domínguez-González C; Servicio de Neurología, Hospital Universitario 12 de Octubre, Madrid, Spain.; Unidad de Neuromuscular, Hospital Universitario 12 de Octubre, Madrid, Spain.; Instituto de Investigación I+12, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), grupo U-723, Madrid, Spain.; Gonzalo-Martínez JF; Servicio de Neurología, Hospital Universitario 12 de Octubre, Madrid, Spain.; Unidad de Neuromuscular, Hospital Universitario 12 de Octubre, Madrid, Spain.; Esteban-Pérez J; Servicio de Neurología, Hospital Universitario 12 de Octubre, Madrid, Spain.; Unidad de Neuromuscular, Hospital Universitario 12 de Octubre, Madrid, Spain.; Instituto de Investigación I+12, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), grupo U-723, Madrid, Spain.; Fernández-Marmiesse A; Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas (UDyTEMC), Hospital Clínico Universitario de Santiago de Compostela, Madrid, Spain.; Arenas J; Instituto de Investigación I+12, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), grupo U-723, Madrid, Spain.; Laboratorio de Enfermedades Mitocondriales, Hospital Universitario 12 de Octubre, Madrid, Spain.; Martín MA; Instituto de Investigación I+12, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), grupo U-723, Madrid, Spain.; Laboratorio de Enfermedades Mitocondriales, Hospital Universitario 12 de Octubre, Madrid, Spain.; Hernández-Laín A; Unidad de Neuromuscular, Hospital Universitario 12 de Octubre, Madrid, Spain.; Instituto de Investigación I+12, Madrid, Spain.; Servicio de Neuropatología, Hospital Universitario 12 de Octubre, Madrid, Spain.
Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE
Academic Journal
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
instname
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
Universidad de Santiago de Compostela (USC)
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Academic Journal
Fernández-Marmiesse A; Unidad Diagnóstico y Tratamiento de Errores Congénitos del Metabolismo (Servicio de Neonatología), Facultad de Medicina y Odontología de la Universidad de Santiago de Compostela, 15706 Santiago de Compostela, La Coruña, Spain. amarmiesse@gmail.com.; Morey MPineda MEiris JCouce MLCastro-Gago MFraga JMLacerda LGouveia SPérez-Poyato MSArmstrong JCastiñeiras DCocho JA
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
Brito S; Serviço de Pediatria, Centro Hospitalar de Leiria, Hospital de Santo André Leiria, Portugal ; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu Barcelona, Spain.; Thompson K; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Newcastle upon Tyne, UK.; Campistol J; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu Barcelona, Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III Barcelona, Spain.; Colomer J; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu Barcelona, Spain.; Hardy SA; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Newcastle upon Tyne, UK.; He L; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Newcastle upon Tyne, UK.; Fernández-Marmiesse A; Diagnosis and Treatment Unit for Inborn Errors of Metabolism, Hospital Clínico Universitario de Santiago de Compostela La Coruña, Spain.; Palacios L; Progenika Biopharma a Grifols Company Derio, Spain.; Jou C; Pathology Department, Hospital Sant Joan de Déu Esplugues Barcelona, Spain.; Jiménez-Mallebrera C; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu Barcelona, Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III Barcelona, Spain.; Armstrong J; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III Barcelona, Spain ; Biochemical, Genetics and Rett Unit, Laboratory Department, Hospital Sant Joan de Déu Esplugues Barcelona, Spain.; Montero R; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III Barcelona, Spain ; Biochemical Department, Hospital Sant Joan de Déu Esplugues Barcelona, Spain.; Artuch R; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III Barcelona, Spain ; Biochemical Department, Hospital Sant Joan de Déu Esplugues Barcelona, Spain.; Tischner C; Cluster of Excellence: Cellular Stress Responses in Aging-Associated Diseases (CECAD), Institute for Genetics, University of Cologne Cologne, Germany.; Wenz T; Cluster of Excellence: Cellular Stress Responses in Aging-Associated Diseases (CECAD), Institute for Genetics, University of Cologne Cologne, Germany ; German Network for Mitochondrial Disorders (mitoNET) Munich, Germany.; McFarland R; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Newcastle upon Tyne, UK.; Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Newcastle upon Tyne, UK.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Brito S; Serviço de Pediatria, Centro Hospitalar de Leiria, Hospital de Santo André Leiria, Portugal ; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu Barcelona, Spain.; Thompson K; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Newcastle upon Tyne, UK.; Campistol J; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu Barcelona, Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III Barcelona, Spain.; Colomer J; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu Barcelona, Spain.; Hardy SA; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Newcastle upon Tyne, UK.; He L; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Newcastle upon Tyne, UK.; Fernández-Marmiesse A; Diagnosis and Treatment Unit for Inborn Errors of Metabolism, Hospital Clínico Universitario de Santiago de Compostela La Coruña, Spain.; Palacios L; Progenika Biopharma a Grifols Company Derio, Spain.; Jou C; Pathology Department, Hospital Sant Joan de Déu Esplugues Barcelona, Spain.; Jiménez-Mallebrera C; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu Barcelona, Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III Barcelona, Spain.; Armstrong J; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III Barcelona, Spain ; Biochemical, Genetics and Rett Unit, Laboratory Department, Hospital Sant Joan de Déu Esplugues Barcelona, Spain.; Montero R; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III Barcelona, Spain ; Biochemical Department, Hospital Sant Joan de Déu Esplugues Barcelona, Spain.; Artuch R; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III Barcelona, Spain ; Biochemical Department, Hospital Sant Joan de Déu Esplugues Barcelona, Spain.; Tischner C; Cluster of Excellence, Cellular Stress Responses in Aging-Associated Diseases, Institute for Genetics, University of Cologne Cologne, Germany.; Wenz T; Cluster of Excellence, Cellular Stress Responses in Aging-Associated Diseases, Institute for Genetics, University of Cologne Cologne, Germany ; German Network for Mitochondrial Disorders Munich, Germany.; McFarland R; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Newcastle upon Tyne, UK.; Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Newcastle upon Tyne, UK.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Academic Journal
Aldámiz-Echevarría L; Unit of Metabolism, Cruces University Hospital, BioCruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER), Barakaldo, Spain.; Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, University Clinical Hospital of Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Coruña, Spain.; Villate O; Unit of Metabolism, Cruces University Hospital, BioCruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER), Barakaldo, Spain.; Fernández-Marmiesse A; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, University Clinical Hospital of Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Coruña, Spain.; Piñán MÁ; Service of Hematology and Hemotherapy, Cruces University Hospital, Barakaldo, Spain.
Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 100886002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1442-200X (Electronic) Linking ISSN: 13288067 NLM ISO Abbreviation: Pediatr Int Subsets: MEDLINE
Academic Journal
Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases. S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Travesía da Choupana s/n, 15706, Santiago de Compostela, A Coruña, Spain. maria.luz.couce.pico@sergas.es.; Vitoria I; Unit of Metabolopathies, Hospital Universitario La Fe, Bulevar sur s/n, 46021, Valencia, Spain.; Aldámiz-Echevarría L; Unit of Metabolism. Cruces University Hospital, Biocruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER), Plaza de Cruces s/n, 48903, Barakaldo, Vizcaya, Spain.; Fernández-Marmiesse A; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases. S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Travesía da Choupana s/n, 15706, Santiago de Compostela, A Coruña, Spain.; Roca I; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases. S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Travesía da Choupana s/n, 15706, Santiago de Compostela, A Coruña, Spain.; Llarena M; Unit of Metabolism. Cruces University Hospital, Biocruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER), Plaza de Cruces s/n, 48903, Barakaldo, Vizcaya, Spain.; Sánchez-Pintos P; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases. S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Travesía da Choupana s/n, 15706, Santiago de Compostela, A Coruña, Spain.; Leis R; Unit of Gastroenterology and Nutrition, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Health Research Institute of Santiago de Compostela (IDIS), Travesía da Choupana s/n, 15706, Santiago de Compostela, A Coruña, Spain.; Hermida A; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Internal Medicine, Universidad de Santiago, Santiago de Compostela, Spain.
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
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[검색어] Fernandez-Marmiesse, A.
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