المؤلفون: Theuriet J; Service d'ENMG et de pathologies neuromusculaires, centre de référence des maladies neuromusculaires PACA-Réunion-Rhône-Alpes, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Groupement Est, Bron, France.; Pathophysiology and Genetics of Neuron and Muscle, CNRS UMR 5261, INSERM U1315, Université Lyon 1, Faculté de Médecine Lyon Est, Lyon, France., Marte S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA., Isapof A; Service de Neurologie Pédiatrique, Hôpital Trousseau, Assistance Publique des Hôpitaux de Paris, Paris, France., de Becdelièvre A; Département de Génétique Médicale, Hôpital Henri Mondor, Assistance Publique des Hôpitaux de Paris, Créteil, France.; Laboratoire de biologie médicale multisites SeqOIA - PFMG2025, Paris, France., Konyukh M; Département de Génétique Médicale, Hôpital Henri Mondor, Assistance Publique des Hôpitaux de Paris, Créteil, France.; Laboratoire de biologie médicale multisites SeqOIA - PFMG2025, Paris, France., Laureano-Figueroa SM; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA., Latour P; Service de Biochimie et Biologie Moléculaire, Unité fonctionnelle des pathologies neurologiques héréditaires, Hospices Civils de Lyon, Groupement Est, Bron, France., Quadrio I; Service de Biochimie et Biologie Moléculaire, Unité fonctionnelle des pathologies neurologiques héréditaires, Hospices Civils de Lyon, Groupement Est, Bron, France., Maisonobe T; Département de Neurophysiologie Clinique, Hôpital Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France., Antonellis A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan, USA., Stojkovic T; Centre de référence des Maladies Neuromusculaires Nord/Est/Ile de France, Institut de Myologie, Hôpital Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France.

المصدر: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Jun; Vol. 29 (2), pp. 275-278. Date of Electronic Publication: 2024 May 20.

نوع المنشور: Case Reports; 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: Amino Acyl-tRNA Synthetases*/genetics , Hereditary Sensory and Motor Neuropathy*/genetics , Hereditary Sensory and Motor Neuropathy*/physiopathology, Adult ; Female ; Humans ; Male ; Middle Aged ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/physiopathology ; France ; Pedigree

المؤلفون: Cabras S; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; School of Advanced Studies, Center for Neuroscience, University of Camerino, Camerino, Italy., Di Pede F; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Canosa A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.; Institute of Cognitive Sciences and Technologies, National Council of Research, Rome, Italy., Grassano M; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Mongini TE; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.; Neuromuscular Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; ERN Euro-NMD, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy., Gadaleta G; Neuromuscular Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Calvo A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy., Chiò A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.; Institute of Cognitive Sciences and Technologies, National Council of Research, Rome, Italy.; ERN Euro-NMD, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy., Moglia C; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy., Gallone S; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.

المصدر: Muscle & nerve [Muscle Nerve] 2024 Jun; Vol. 69 (6), pp. 730-732. Date of Electronic Publication: 2024 Mar 27.

نوع المنشور: Case Reports; Letter

بيانات الدورية: 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

مواضيع طبية MeSH: Hereditary Sensory and Motor Neuropathy*/genetics , Hereditary Sensory and Motor Neuropathy*/diagnosis , Motor Neuron Disease*/genetics , Motor Neuron Disease*/diagnosis, Humans ; Italy ; Male ; Female ; Adult ; Middle Aged ; Pedigree

المؤلفون: Wang Y; State Key Laboratory of Marine Food Processing and Safety Control, Dalian Polytechnic University, Dalian 116034, China., Yang C; State Key Laboratory of Marine Food Processing and Safety Control, Dalian Polytechnic University, Dalian 116034, China., Wang X; State Key Laboratory of Marine Food Processing and Safety Control, Dalian Polytechnic University, Dalian 116034, China., Zhang S; State Key Laboratory of Marine Food Processing and Safety Control, Dalian Polytechnic University, Dalian 116034, China., Wang S; State Key Laboratory of Marine Food Processing and Safety Control, Dalian Polytechnic University, Dalian 116034, China., Wu D; State Key Laboratory of Marine Food Processing and Safety Control, Dalian Polytechnic University, Dalian 116034, China; National Engineering Research Center of Seafood, School of Food Science and Technology, Dalian Polytechnic University, Dalian 116034, China., Rakariyatham K; State Key Laboratory of Marine Food Processing and Safety Control, Dalian Polytechnic University, Dalian 116034, China., Hu J; State Key Laboratory of Marine Food Processing and Safety Control, Dalian Polytechnic University, Dalian 116034, China; National Engineering Research Center of Seafood, School of Food Science and Technology, Dalian Polytechnic University, Dalian 116034, China., Zhao Q; State Key Laboratory of Marine Food Processing and Safety Control, Dalian Polytechnic University, Dalian 116034, China; National Engineering Research Center of Seafood, School of Food Science and Technology, Dalian Polytechnic University, Dalian 116034, China. Electronic address: zhaoqi@dlpu.edu.cn.

المصدر: Food chemistry [Food Chem] 2024 Jun 15; Vol. 443, pp. 138561. Date of Electronic Publication: 2024 Jan 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Applied Science Publishers Country of Publication: England NLM ID: 7702639 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-7072 (Electronic) Linking ISSN: 03088146 NLM ISO Abbreviation: Food Chem Subsets: MEDLINE

مواضيع طبية MeSH: Nanoparticles*/chemistry , Hereditary Sensory and Motor Neuropathy*, Humans ; Fatty Acids, Nonesterified ; Silicon Dioxide/chemistry ; Spectroscopy, Fourier Transform Infrared ; Adsorption

المؤلفون: Braga VL; Departament of Neurology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: viniciuslopesbraga@live.com., Tamanini JVG; Departament of Neurology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Gama SM; Departament of Neurology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Fraiman PHA; Departament of Neurology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Silva TYT; Departament of Neurology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Santos-Neto D; Departament of Neurology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Barsottini OGP; Departament of Neurology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Pedroso JL; Departament of Neurology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.

المصدر: Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2024 Apr; Vol. 239, pp. 108213. Date of Electronic Publication: 2024 Feb 28.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7502039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6968 (Electronic) Linking ISSN: 03038467 NLM ISO Abbreviation: Clin Neurol Neurosurg Subsets: MEDLINE

مواضيع طبية MeSH: Hereditary Sensory and Motor Neuropathy*/diagnosis , Hereditary Sensory and Motor Neuropathy*/genetics , Muscular Diseases*, Female ; Humans ; Brazil ; Asian People ; Pedigree

SCR Disease Name: Neuropathy, hereditary motor and sensory, Okinawa type

المؤلفون: Silsby M; Neurology Department, Westmead Hospital, Westmead Clinical School, University of Sydney, Sydney, NSW, Australia.; Brain and Nerve Research Centre, University of Sydney, Concord, NSW, Australia.; Neurology Department, Concord Hospital, Sydney, NSW, Australia., Yiannikas C; Neurology Department, Concord Hospital, Sydney, NSW, Australia.; Neurology Department, Royal North Shore Hospital, Sydney, NSW, Australia., Fois AF; Neurology Department, Westmead Hospital, Westmead Clinical School, University of Sydney, Sydney, NSW, Australia., Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Sydney, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia., Kiernan MC; Neurology Department, Royal Prince Alfred Hospital Sydney, Sydney, NSW, Australia.; Brain and Mind Centre, University of Sydney, Camperdown, NSW, Australia., Fung VSC; Neurology Department, Westmead Hospital, Westmead Clinical School, University of Sydney, Sydney, NSW, Australia., Vucic S; Brain and Nerve Research Centre, University of Sydney, Concord, NSW, Australia. steve.vucic@sydney.edu.au.; Neurology Department, Concord Hospital, Sydney, NSW, Australia. steve.vucic@sydney.edu.au.

المصدر: Journal of neurology [J Neurol] 2024 Apr; Vol. 271 (4), pp. 1776-1786. Date of Electronic Publication: 2023 Dec 05.

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Essential Tremor* , Charcot-Marie-Tooth Disease* , Hereditary Sensory and Motor Neuropathy*, Humans ; Tremor ; Lower Extremity ; Fatigue

المؤلفون: Xu L; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China., Wang Y; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China., Wang W; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China., Zhang R; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China., Zhao D; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China., Yun Y; Department of Radiology, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China., Liu F; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China., Zhao Y; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China lpfsdu@foxmail.com zyy72@126.com., Yan C; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China., Lin P; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China lpfsdu@foxmail.com zyy72@126.com.

المصدر: Journal of medical genetics [J Med Genet] 2024 Mar 21; Vol. 61 (4), pp. 325-331. Date of Electronic Publication: 2024 Mar 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Spastic Paraplegia, Hereditary*/genetics , Spastic Paraplegia, Hereditary*/pathology , Hereditary Sensory and Motor Neuropathy* , Nervous System Diseases*, Humans ; Proteins/genetics ; Mutation/genetics ; Pedigree ; Paraplegia ; Vesicular Transport Proteins/genetics

SCR Disease Name: Spastic paraplegia 10, autosomal dominant

المؤلفون: Du H; Hubei Engineering Research Center for Skin Repair and Theranostics, Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (HUST), Wuhan 430022, China. tjhappy@126.com., Yang J; Hubei Engineering Research Center for Skin Repair and Theranostics, Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (HUST), Wuhan 430022, China. tjhappy@126.com., Li M; Key Laboratory of Material Chemistry for Energy Conversion and Storage (HUST), Ministry of Education, School of Chemistry and Chemical Engineering, HUST, Wuhan 430074, China. zhanglianbin@hust.edu.cn., Xia Y; Hubei Engineering Research Center for Skin Repair and Theranostics, Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (HUST), Wuhan 430022, China. tjhappy@126.com., Li Y; Hubei Engineering Research Center for Skin Repair and Theranostics, Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (HUST), Wuhan 430022, China. tjhappy@126.com., Zhu J; Key Laboratory of Material Chemistry for Energy Conversion and Storage (HUST), Ministry of Education, School of Chemistry and Chemical Engineering, HUST, Wuhan 430074, China. zhanglianbin@hust.edu.cn., Zhang L; Key Laboratory of Material Chemistry for Energy Conversion and Storage (HUST), Ministry of Education, School of Chemistry and Chemical Engineering, HUST, Wuhan 430074, China. zhanglianbin@hust.edu.cn., Tao J; Hubei Engineering Research Center for Skin Repair and Theranostics, Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (HUST), Wuhan 430022, China. tjhappy@126.com.

المصدر: Journal of materials chemistry. B [J Mater Chem B] 2024 Mar 06; Vol. 12 (10), pp. 2618-2627. Date of Electronic Publication: 2024 Mar 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Royal Society of Chemistry Country of Publication: England NLM ID: 101598493 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-7518 (Electronic) Linking ISSN: 2050750X NLM ISO Abbreviation: J Mater Chem B Subsets: MEDLINE

مواضيع طبية MeSH: Psoriasis*/drug therapy , Nanoparticles* , Hereditary Sensory and Motor Neuropathy*/drug therapy, Animals ; Mice ; Humans ; Methotrexate/pharmacology ; Methotrexate/therapeutic use ; Inflammation/drug therapy ; Anti-Inflammatory Agents/therapeutic use

المؤلفون: Zhang M; School of Chemistry and Chemical Engineering, Shanghai Engineering Technology Research Center for Pharmaceutical Intelligent Equipment, Shanghai Frontiers Science Research Center for Druggability of Cardiovascular Noncoding RNA, Institute for Frontier Medical Technology, Shanghai University of Engineering Science, Shanghai 201620, China., Chen Y; Department of Radiation Oncology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, No.1111, Xianxia Road, Shanghai 200336, China., Wang Q; Research Institute of Digital and Intelligent Orthopedics, Department of Orthopedics, Shanghai Pudong Hospital, Fudan University Pudong Medical Center, No. 2800 Gongwei Road, Huinan Town, Pudong, Shanghai 201399, China., Li C; Trauma Center, Shanghai General Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 201620, China., Yuan C; School of Chemistry and Chemical Engineering, Shanghai Engineering Technology Research Center for Pharmaceutical Intelligent Equipment, Shanghai Frontiers Science Research Center for Druggability of Cardiovascular Noncoding RNA, Institute for Frontier Medical Technology, Shanghai University of Engineering Science, Shanghai 201620, China., Lu J; School of Chemistry and Chemical Engineering, Shanghai Engineering Technology Research Center for Pharmaceutical Intelligent Equipment, Shanghai Frontiers Science Research Center for Druggability of Cardiovascular Noncoding RNA, Institute for Frontier Medical Technology, Shanghai University of Engineering Science, Shanghai 201620, China., Luo Y; School of Chemistry and Chemical Engineering, Shanghai Engineering Technology Research Center for Pharmaceutical Intelligent Equipment, Shanghai Frontiers Science Research Center for Druggability of Cardiovascular Noncoding RNA, Institute for Frontier Medical Technology, Shanghai University of Engineering Science, Shanghai 201620, China., Liu X; School of Chemistry and Chemical Engineering, Shanghai Engineering Technology Research Center for Pharmaceutical Intelligent Equipment, Shanghai Frontiers Science Research Center for Druggability of Cardiovascular Noncoding RNA, Institute for Frontier Medical Technology, Shanghai University of Engineering Science, Shanghai 201620, China. Electronic address: liuxijian@sues.edu.cn.

المصدر: Journal of colloid and interface science [J Colloid Interface Sci] 2024 Mar; Vol. 657, pp. 619-631. Date of Electronic Publication: 2023 Dec 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 0043125 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-7103 (Electronic) Linking ISSN: 00219797 NLM ISO Abbreviation: J Colloid Interface Sci Subsets: MEDLINE

مواضيع طبية MeSH: Ferroptosis* , Antineoplastic Agents*/pharmacology , Antineoplastic Agents*/therapeutic use , Neoplasms*/drug therapy , Neoplasms*/pathology , Nanoparticles*/chemistry , Hereditary Sensory and Motor Neuropathy*/drug therapy, Humans ; Photothermal Therapy ; Phototherapy/methods ; Precision Medicine ; Reactive Oxygen Species ; Hydrogen Peroxide ; Doxorubicin/chemistry ; Silicon Dioxide/chemistry ; Cell Line, Tumor ; Tumor Microenvironment

المؤلفون: Krauter D; Research Group 'Translational Neurogenetics', Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Department of Neurogenetics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.; Division of Molecular Neurobiology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Stausberg D; Research Group 'Translational Neurogenetics', Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Department of Neurogenetics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Hartmann TJ; Research Group 'Translational Neurogenetics', Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Department of Neurogenetics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Volkmann S; Department of Neurogenetics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Kungl T; Institute of Anatomy, University of Leipzig, Leipzig, Germany., Rasche DA; Research Group 'Translational Neurogenetics', Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Department of Neurogenetics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany., Saher G; Department of Neurogenetics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Fledrich R; Institute of Anatomy, University of Leipzig, Leipzig, Germany., Stassart RM; Institute of Neuropathology, University of Leipzig, Leipzig, Germany., Nave KA; Department of Neurogenetics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Goebbels S; Department of Neurogenetics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. sgoebbels@mpinat.mpg.de., Ewers D; Research Group 'Translational Neurogenetics', Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. david.ewers@med.uni-goettingen.de.; Department of Neurogenetics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. david.ewers@med.uni-goettingen.de.; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany. david.ewers@med.uni-goettingen.de., Sereda MW; Research Group 'Translational Neurogenetics', Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. mwsereda@med.uni-goettingen.de.; Department of Neurogenetics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. mwsereda@med.uni-goettingen.de.; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany. mwsereda@med.uni-goettingen.de.

المصدر: EMBO molecular medicine [EMBO Mol Med] 2024 Mar; Vol. 16 (3), pp. 616-640. Date of Electronic Publication: 2024 Feb 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: EMBO Press Country of Publication: England NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: Phosphatidylinositol 3-Kinases* , Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/pathology , Arthrogryposis* , Hereditary Sensory and Motor Neuropathy*, Mice ; Animals ; Proto-Oncogene Proteins c-akt ; Rodentia/metabolism ; Myelin Proteins/genetics ; Myelin Proteins/metabolism ; TOR Serine-Threonine Kinases

SCR Disease Name: Tomaculous neuropathy

المؤلفون: Lajlar N; Celje General Hospital, Celje.; Faculty of Medicine, University of Ljubljana, Ljubljana., Vidmar G; University Rehabilitation Institute.; Faculty of Medicine, University of Ljubljana, Ljubljana.; Faculty of Mathematics, Natural Sciences and Information Technologies, University of Primorska, Koper, Slovenia., Moharić M; University Rehabilitation Institute.; Faculty of Medicine, University of Ljubljana, Ljubljana.

المصدر: International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation [Int J Rehabil Res] 2024 Mar 01; Vol. 47 (1), pp. 20-25. Date of Electronic Publication: 2023 Dec 14.

نوع المنشور: Observational Study; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 7805421 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5660 (Electronic) Linking ISSN: 03425282 NLM ISO Abbreviation: Int J Rehabil Res Subsets: MEDLINE

مواضيع طبية MeSH: Myotonic Dystrophy* , Hereditary Sensory and Motor Neuropathy*, Humans ; Female ; Young Adult ; Adult ; Middle Aged ; Aged ; Adolescent ; Quality of Life ; Depression ; Prospective Studies