المؤلفون: Li Z; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China., Zeng S; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China., Xie Y; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China., Li X; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China., Huang S; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China., Zhao H; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China., Cao W; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China., Liu L; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.; Health Management Center, The Third Xiangya Hospital, Central South University, Changsha, China., Wang M; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China., Gong Q; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China., Liu J; Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, China., Rong P; Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, China., Zhang R; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.

المصدر: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Jun; Vol. 29 (2), pp. 232-242. Date of Electronic Publication: 2024 May 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/physiopathology , Charcot-Marie-Tooth Disease*/diagnostic imaging , Mutation* , Nerve Tissue Proteins*/genetics, Humans ; Male ; Female ; Adult ; Adolescent ; Young Adult ; Child ; Middle Aged ; Asian People/genetics ; China ; Retrospective Studies ; Pedigree ; Child, Preschool ; Phenotype ; East Asian People

المؤلفون: Xu IRL; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA., Danzi MC; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA., Ruiz A; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA., Raposo J; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA., De Jesus YA; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA., Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square, London, UK., Cortese A; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square, London, UK.; Department of Brain and Behaviour Sciences, University of Pavia, Pavia, Italy., Shy ME; Department of Neurology, University of Iowa, Iowa City, Iowa, USA., Scherer SS; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Herrmann DN; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA., Fridman V; Department of Neurology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Baets J; Department of Neurology, Neuromuscular Reference Centre, Antwerp University Hospital, Antwerp, Belgium.; Faculty of Medicine and Health Sciences, Translational Neurosciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Saporta M; Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA., Seyedsadjadi R; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Stojkovic T; APHP, Neuromuscular Diseases Reference Center, Pitié-Salpêtrière Hospital, Paris, France., Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Department of Neurosciences, Laboratory for Muscle Diseases and Neuropathies, KU Leuven, Leuven, Belgium., Patel P; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Feely S; Department of Neurology, University of Iowa, Iowa City, Iowa, USA., Rebelo AP; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA., Dohrn MF; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.; Department of Neurology, Medical Faculty of the RWTH Aachen University, Aachen, Germany., Züchner S; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.

مؤلفون مشاركون: Inherited Neuropathy Consortium

المصدر: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Jun; Vol. 29 (2), pp. 202-212. Date of Electronic Publication: 2024 Apr 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/physiopathology, Humans ; Adult ; Male ; Female ; Middle Aged ; Adolescent ; Young Adult ; Severity of Illness Index ; Child ; Myelin Proteins/genetics ; Patient Selection ; Phenotype ; Aged ; Genes, Modifier ; Child, Preschool

المؤلفون: Liu L; Health Management Center, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Zeng S; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Li X; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Xie Y; Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Xu K; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Yang H; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Huang S; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Zhao H; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China., Zhang R; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, People's Republic of China.

المصدر: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Jun; Vol. 29 (2), pp. 243-251. Date of Electronic Publication: 2024 May 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/physiopathology , Genetic Association Studies*, Humans ; Female ; Male ; Adult ; China/epidemiology ; Cohort Studies ; Adolescent ; Child ; Mutation ; Transcription Factors/genetics ; Young Adult ; DNA-Binding Proteins/genetics ; Middle Aged ; Pedigree ; Child, Preschool

المؤلفون: Rhymes ER; Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Simkin RL; Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Qu J; Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Villarroel-Campos D; Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; UK Dementia Research Institute at University College London, London WC1N 3BG, UK., Surana S; Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; UK Dementia Research Institute at University College London, London WC1N 3BG, UK., Tong Y; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA., Shapiro R; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA., Burgess RW; The Jackson Laboratory, Bar Harbor, ME 04609, USA., Yang XL; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA., Schiavo G; Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; UK Dementia Research Institute at University College London, London WC1N 3BG, UK., Sleigh JN; Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; UK Dementia Research Institute at University College London, London WC1N 3BG, UK. Electronic address: j.sleigh@ucl.ac.uk.

المصدر: Neurobiology of disease [Neurobiol Dis] 2024 Jun 01; Vol. 195, pp. 106501. Date of Electronic Publication: 2024 Apr 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/metabolism , Brain-Derived Neurotrophic Factor*/metabolism , Brain-Derived Neurotrophic Factor*/genetics , Axonal Transport* , Disease Models, Animal*, Animals ; Mice ; Tyrosine-tRNA Ligase/genetics ; Tyrosine-tRNA Ligase/metabolism ; Humans ; Mice, Transgenic ; Muscle, Skeletal/metabolism ; Receptor, trkB/metabolism ; Receptor, trkB/genetics ; Mutation

المؤلفون: Doherty CM; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Howard P; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., O'Donnell LF; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Zuccarino R; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Fondazione Serena Onlus, Centro Clinico NeMO Trento, Italy., Wastling S; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK., Milev E; Dubowitz Neuromuscular Center, Great Ormond Street Hospital, London, UK., Banks T; Department of Radiology, Great Ormond Street Hospital, London, UK., Shah S; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK., Zafeiropoulos N; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK., Stephens KJ; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Sarkozy A; Dubowitz Neuromuscular Center, Great Ormond Street Hospital, London, UK., Grider T; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Feely SME; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA., Manzur A; Dubowitz Neuromuscular Center, Great Ormond Street Hospital, London, UK., Shy RR; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Skorupinska M; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Pipis M; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Nicolaisen E; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., McDowell A; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK., Dilek N; University of Rochester School of Medicine and Dentistry, New York, NY, USA., Rossor AM; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Laura M; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Clark C; Department of Radiology, Great Ormond Street Hospital, London, UK., Muntoni F; Dubowitz Neuromuscular Center, Great Ormond Street Hospital, London, UK., Thedens D; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Thornton J; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK., Morrow JM; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Shy ME; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Reilly MM; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

المصدر: Annals of neurology [Ann Neurol] 2024 Jul; Vol. 96 (1), pp. 170-174. Date of Electronic Publication: 2024 Apr 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/diagnostic imaging , Charcot-Marie-Tooth Disease*/physiopathology , Disease Progression* , Magnetic Resonance Imaging*/methods , Muscle, Skeletal*/diagnostic imaging , Muscle, Skeletal*/physiopathology , Foot*, Humans ; Child ; Male ; Female ; Adolescent ; Young Adult

المؤلفون: Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia.; The University of Sydney, Camperdown, New South Wales, Australia., Parmar JM; Rare Disease Genetics and Functional Genomics Research Group, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, Western Australia, Australia., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia.; The University of Sydney, Camperdown, New South Wales, Australia., Bryen S; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Simons C; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Reis ALM; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia., Stevanovski I; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Deveson IW; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia., Nicholson G; The University of Sydney, Camperdown, New South Wales, Australia.; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, New South Wales, Australia., Laing N; Rare Disease Genetics and Functional Genomics Research Group, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia., Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia., Ravenscroft G; Rare Disease Genetics and Functional Genomics Research Group, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia., Kumar KR; The University of Sydney, Camperdown, New South Wales, Australia.; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, New South Wales, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; St Vincent's Healthcare Campus, Faculty of Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia., Vucic S; The University of Sydney, Camperdown, New South Wales, Australia.; Brain and Nerve Research Centre, The University of Sydney, Sydney, New South Wales, Australia., Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia.; The University of Sydney, Camperdown, New South Wales, Australia.; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, New South Wales, Australia.

المصدر: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Jun; Vol. 29 (2), pp. 262-274. Date of Electronic Publication: 2024 Jun 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/genetics , Pedigree* , RNA Splicing*/genetics , Introns*/genetics, Humans ; Male ; Female ; Metalloendopeptidases/genetics ; Adult ; Mutation

المؤلفون: Liu X; Center for Genomic and Regenerative Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan., Ishikawa KI; Center for Genomic and Regenerative Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Department of Research and Development for Organoids, Juntendo University School of Medicine, Tokyo, Japan. Electronic address: kishikaw@juntendo.ac.jp., Hattori N; Center for Genomic and Regenerative Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Neurodegenerative Disorders Collaborative Laboratory, RIKEN Center for Brain Science, Saitama, Japan., Akamatsu W; Center for Genomic and Regenerative Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan.

المصدر: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103401. Date of Electronic Publication: 2024 Mar 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/pathology , Induced Pluripotent Stem Cells*/metabolism , Induced Pluripotent Stem Cells*/pathology , Myelin Proteins*/genetics , Myelin Proteins*/metabolism, Humans ; Cell Line ; Cell Differentiation ; Gene Duplication ; Male

المؤلفون: Armirola-Ricaurte C; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Zonnekein N; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Koutsis G; Neurogenetics Unit, 1st Department of Neurology, Eginitio Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Amor-Barris S; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Pelayo-Negro AL; University Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain., Atkinson D; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Efthymiou S; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom., Turchetti V; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom., Dinopoulos A; 3rd Department of Pediatrics, Attiko Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Garcia A; Service of Clinical Neurophysiology, University Hospital Marqués de Valdecilla, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain., Karakaya M; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany., Moris G; Service of Neurology, University Hospital Central de Asturias, University of Oviedo, Oviedo, Spain., Polat AI; Department of Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey., Yiş U; Department of Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey., Espinos C; Rare Neurodegenerative Disease Laboratory, Centro de Investigación Príncipe Felipe (CIPF), CIBER on Rare Diseases (CIBERER), Valencia, Spain., Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., De Vriendt E; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Karadima G; Neurogenetics Unit, 1st Department of Neurology, Eginitio Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany., Hanna M; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom., Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom., Berciano J; University Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain., Jordanova A; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria. Electronic address: albena.jordanova@uantwerpen.be.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101117. Date of Electronic Publication: 2024 Mar 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Alternative Splicing*/genetics , Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/pathology , Mitochondrial Diseases*/genetics , Mitochondrial Diseases*/pathology, Humans ; Male ; Female ; Child ; NADH Dehydrogenase/genetics ; Pedigree ; Mutation/genetics ; Phenotype ; Exome Sequencing ; Leigh Disease/genetics ; Leigh Disease/pathology ; Mitochondria/genetics ; Mitochondria/pathology ; Electron Transport Complex I/genetics ; Adult ; Child, Preschool ; Adolescent

المؤلفون: Song JH; Department of Orthopaedic Surgery, Konyang University Hospital, Daejeon, South Korea., Michalski MP; Department of Orthopaedic Surgery, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Pfeffer GB; Department of Orthopaedic Surgery, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

المصدر: Foot & ankle international [Foot Ankle Int] 2024 Jun; Vol. 45 (6), pp. 601-611. Date of Electronic Publication: 2024 Mar 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sage Publications Country of Publication: United States NLM ID: 9433869 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1944-7876 (Electronic) Linking ISSN: 10711007 NLM ISO Abbreviation: Foot Ankle Int Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/surgery , Charcot-Marie-Tooth Disease*/diagnostic imaging , Imaging, Three-Dimensional* , Tomography, X-Ray Computed*, Humans ; Retrospective Studies ; Female ; Adult ; Male ; Talipes Cavus/surgery ; Talipes Cavus/diagnostic imaging ; Weight-Bearing ; Adolescent ; Young Adult ; Middle Aged ; Standing Position

المؤلفون: Srivastava A; Department of Spine Surgery, Max Superspeciality Hospital, Vaishali, Ghaziabad, India., Hanasoge V; Department of Spine Surgery, Kothari Medical Center, Kolkata, India., Gupta A; Department of Spine Surgery, Max Superspeciality Hospital, Vaishali, Ghaziabad, India. anuj.toto123@gmail.com., Jayaswal A; Department of Spine Surgery, Max Superspeciality Hospital, Vaishali, Ghaziabad, India.

المصدر: Spinal cord series and cases [Spinal Cord Ser Cases] 2024 May 25; Vol. 10 (1), pp. 38. Date of Electronic Publication: 2024 May 25.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101680856 Publication Model: Electronic Cited Medium: Internet ISSN: 2058-6124 (Electronic) Linking ISSN: 20586124 NLM ISO Abbreviation: Spinal Cord Ser Cases Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/surgery , Charcot-Marie-Tooth Disease*/physiopathology , Scoliosis*/surgery , Evoked Potentials, Motor*/physiology, Humans ; Male ; Adolescent ; Intraoperative Neurophysiological Monitoring/methods