医学
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Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center
作者Kun Huang; Qiu-Xiang Li; Hui-Qian Duan; Yue-Bei Luo; Fang-Fang Bi; Huan Yang
作者单位1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; 2. Institute of Molecular Precision Medicine and Hunan Key Laboratory of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha, China; 3. National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype
作者Maria Rosário Almeida; Inês Elias; Carolina Fernandes; Rita Machado; Orlando Galego; Gustavo Santo
作者单位1. CNC – Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal; 2. Neurology Department, Coimbra University Hospital, Coimbra, Portugal; 3. Neuroradiology Department, Coimbra University Hospital, Coimbra, Portugal
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer
作者K. Štěrbová; M. Vlčková; H. Hansíková; V. Sebroňová; L. Sedláčková; P. Pavlíček; P. Laššuthová
作者单位1. Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic; 2. Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic; 3. Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; 4. Department of Anaesthesiology and Resuscitation, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study
作者Ji-You Min; Seo-Jin Park; Eun-Joo Kang; Seung-Yong Hwang; Sung-Hee Han
作者单位1. Division of Biotechnology, Bio-Core Co. Ltd., Yongin, Korea; 2. Department of Brain and Cognitive Sciences, Ewha Womans University, Seoul, Korea; 3. Department of Laboratory Medicine, Ajou University School of Medicine, Suwon, Korea
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
作者Berardo Rinaldi; Yu-Han Ge; Elena Freri; Arianna Tucci; Tiziana Granata; Margherita Estienne; Jia-Hui Sun; Bénédicte Gérard; Allan Bayat; Stephanie Efthymiou; Cristina Gervasini; Yun Stone Shi; Henry Houlden; Paola Marchisio; Donatella Milani
作者单位1. Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy; 2. Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China; 3. State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Institute for Brain Sciences, Chemistry and Biomedicine Innovation Center, Nanjing University, Nanjing, China; 4. Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; 5. Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK; 6. Laboratoires de diagnostic génétique, Institut Medical d’Alsace, Hôpitaux Universitaire de Strasbourg, Strasbourg, France; 7. Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; 8. Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark; 9. Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London, UK; 10. Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype
作者Hongzhu Chen; Niu Li; Yufei Xu; Guoqiang Li; Cui Song; Ru-en Yao; Tingting Yu; Jian Wang; Lin Yang
作者单位1. Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, People’s Republic of China; 2. Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai, People’s Republic of China; 3. Shanghai Clinical Research Center for Rare Pediatric Diseases, Shanghai, People’s Republic of China; 4. Department of Endocrinology and Genetic Metabolism Disease, Children’s Hospital of Chongqing Medical University, Chongqing, People’s Republic of China; 5. Department of Clinical laboratory, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, People’s Republic of China
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes
作者Raffaella Brugnoni; Eleonora Canioni; Massimiliano Filosto; Antonella Pini; Paola Tonin; Tommaso Rossi; Carlotta Canavese; Marica Eoli; Gabriele Siciliano; Giuseppe Lauria; Renato Mantegazza; Lorenzo Maggi
作者单位1. Neurology IV Unit, Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; 2. Department of Clinical and Experimental Sciences, University of Brescia, NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy; 3. Neuromuscular Pediatric Unit, IRCCS Istituto Delle Scienze Neurologiche of Bologna, Bologna, Italy; 4. Neurological Clinic, University of Verona, Verona, Italy; 5. INRCA, Istituto Nazionale Di Ricovero E Cura Per Anziani, Ancona, Italy; 6. Child and Adolescent Neuropsychiatry Unit, University of Torino, Torino, Italy; 7. Molecular Neuro-Oncology Unit, IRCCS-Fondazione Istituto Neurologico Carlo Besta, Milan, Italy; 8. Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy; 9. Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; 10. Department of Biomedical and Clinical Sciences Luigi Sacco, University of Milan, Milan, Italy
Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer’s disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages
作者Masaki Ikeda; Koichi Okamoto; Keiji Suzuki; Masakuni Amari; Eriko Takai; Masamitsu Takatama; Hideaki Yokoo; Shun Ishibashi; Yoshio Ikeda
作者单位1. Division of General Education (Neurology), Faculty of Health & Medical Care, Saitama Medical University, Hidaka, Japan; 2. Department of Neurology, Geriatrics Research Institute and Hospital, Maebashi, Japan; 3. Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan; 4. Department of Pathology, Geriatrics Research Institute and Hospital, Maebashi, Japan; 5. Department of Internal Medicine, Geriatrics Research Institute and Hospital, Maebashi, Japan; 6. Department of Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan; 7. Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Shimotsukeshi, Tochigi, Japan
FUS mutations dominate TBK1 mutations in FUS / TBK1 double-mutant ALS/FTD pedigrees
作者David Brenner; Kathrin Müller; Serena Lattante; Rüstem Yilmaz; Antje Knehr; Axel Freischmidt; Albert C. Ludolph; Peter M. Andersen; Jochen H. Weishaupt
作者单位1. Division of Neurodegeneration, Department of Neurology, Mannheim Center for Translational Neurosciences (MCTN), Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany; 2. Department of Neurology, University of Ulm, Ulm, Germany; 3. Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy; 4. Unit of Medical Genetics, Department of Laboratory and Infectious Disease Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; 5. Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden
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