المؤلفون: Laurá M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK m.laura@ucl.ac.uk., Barnett J; Foot & Ankle Unit, Royal National Orthopaedic Hospital Stanmore Site, Stanmore, UK., Benfield J; Foot & Ankle Unit, Royal National Orthopaedic Hospital Stanmore Site, Stanmore, UK., Ramdharry GM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Welck MJ; Foot & Ankle Unit, Royal National Orthopaedic Hospital Stanmore Site, Stanmore, UK.

المصدر: Practical neurology [Pract Neurol] 2024 Jul 16; Vol. 24 (4), pp. 275-284. Date of Electronic Publication: 2024 Jul 16.

نوع المنشور: Journal Article; Review

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

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/surgery , Charcot-Marie-Tooth Disease*/complications, Humans ; Adult ; Foot/surgery ; Foot Deformities/surgery

المؤلفون: Song B; Department of Otorhinolaryngology-Head and Neck Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea., Cho H; Department of Otorhinolaryngology-Head and Neck Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea., Yun J; Department of Otorhinolaryngology-Head and Neck Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea., Moon IJ; Department of Otorhinolaryngology-Head and Neck Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea. moonij@skku.edu.

المصدر: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery [Eur Arch Otorhinolaryngol] 2024 Jul; Vol. 281 (7), pp. 3845-3851. Date of Electronic Publication: 2024 Apr 06.

نوع المنشور: Journal Article; Case Reports; Review

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 9002937 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1434-4726 (Electronic) Linking ISSN: 09374477 NLM ISO Abbreviation: Eur Arch Otorhinolaryngol Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/complications , Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/surgery , Cochlear Implantation*/methods, Humans ; Female ; Adult ; Hearing Loss, Sudden/etiology ; Hearing Loss, Sudden/surgery

المؤلفون: De Grado A; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Pisciotta C; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Saveri P; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Pareyson D; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

المصدر: Expert opinion on investigational drugs [Expert Opin Investig Drugs] 2024 Jul; Vol. 33 (7), pp. 653-656. Date of Electronic Publication: 2024 May 08.

نوع المنشور: Editorial

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9434197 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-7658 (Electronic) Linking ISSN: 13543784 NLM ISO Abbreviation: Expert Opin Investig Drugs Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/drug therapy , Charcot-Marie-Tooth Disease*/physiopathology , Drugs, Investigational*/pharmacology , Drug Development*, Humans ; Animals ; Drug Design

المؤلفون: Tadenev ALD; The Jackson Laboratory, Bar Harbor, Maine, USA., Hatton CL; The Jackson Laboratory, Bar Harbor, Maine, USA., Burgess RW; The Jackson Laboratory, Bar Harbor, Maine, USA.

المصدر: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Jun; Vol. 29 (2), pp. 213-220. Date of Electronic Publication: 2024 Mar 29.

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 , Histone Deacetylase 6*/genetics , Disease Models, Animal*, Animals ; Mice ; Humans ; Sciatic Nerve ; Mice, Knockout ; Gene Deletion ; Male ; Tubulin/metabolism ; Tubulin/genetics ; Glycine-tRNA Ligase/genetics ; Neural Conduction/physiology ; Neural Conduction/drug effects

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: 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; Research Support, Non-U.S. Gov't

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: 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