Paper Review Records
All Paper Review Records
10 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
34
days
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype
Authors
Hongzhu Chen; Niu Li; Yufei Xu; Guoqiang Li; Cui Song; Ru-en Yao; Tingting Yu; Jian Wang; Lin YangShow moreShow less
Affiliations
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 ChinaShow moreShow less
89
days
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes
Authors
Raffaella Brugnoni; Eleonora Canioni; Massimiliano Filosto; Antonella Pini; Paola Tonin; Tommaso Rossi; Carlotta Canavese; Marica Eoli; Gabriele Siciliano; Giuseppe Lauria; Renato Mantegazza; Lorenzo MaggiShow moreShow less
Affiliations
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, ItalyShow moreShow less
40
days
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
Authors
Masaki Ikeda; Koichi Okamoto; Keiji Suzuki; Masakuni Amari; Eriko Takai; Masamitsu Takatama; Hideaki Yokoo; Shun Ishibashi; Yoshio IkedaShow moreShow less
Affiliations
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, JapanShow moreShow less
35
days
FUS mutations dominate TBK1 mutations in FUS / TBK1 double-mutant ALS/FTD pedigrees
Authors
David Brenner; Kathrin Müller; Serena Lattante; Rüstem Yilmaz; Antje Knehr; Axel Freischmidt; Albert C. Ludolph; Peter M. Andersen; Jochen H. WeishauptShow moreShow less
Affiliations
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, SwedenShow moreShow less
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