المؤلفون: Ziaadini B; Neurology Research Center, Kerman University of Medical Sciences, Kerman, Iran., Ghaderi Yazdi B; Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences, Shariati Hospital, North Karegar St, Tehran, 14117-13135, Iran.; Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran., Dirandeh E; Clinical Research Development Unit, Kowsar Educational, Research and Therapeutic Hospital, Semnan University of Medical Sciences, Semnan, Iran., Boostani R; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran., Karimi N; Department of Neurology, School of Medicine, Immunogenetics Research Center, Toxoplasmosis Research Center, Clinical Research Development Unit of Bou Ali Sina Hospital, Mazandaran University of Medical Sciences, Sari, Iran., Panahi A; Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences, Shariati Hospital, North Karegar St, Tehran, 14117-13135, Iran.; Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran., Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran., Fadaee M; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran., Ahangari F; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran., Nafissi S; Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences, Shariati Hospital, North Karegar St, Tehran, 14117-13135, Iran. nafisi@sina.tums.ac.ir.; Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. nafisi@sina.tums.ac.ir.

المصدر: BMC neurology [BMC Neurol] 2024 Jun 21; Vol. 24 (1), pp. 211. Date of Electronic Publication: 2024 Jun 21.

نوع المنشور: Journal Article; Review; Case Reports

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Myasthenic Syndromes, Congenital*/genetics , Myasthenic Syndromes, Congenital*/diagnosis , Myasthenic Syndromes, Congenital*/drug therapy , Myasthenic Syndromes, Congenital*/physiopathology , Muscle Proteins*/genetics, Humans ; Male ; Female ; Adult ; Young Adult ; Adolescent ; Child ; Mutation

المؤلفون: Banerjee A; Department of Pediatrics, Institute of Post Graduate Medical Education and Research, Kolkata, India., Datta Kanjilal S; Department of Pediatrics, Institute of Post Graduate Medical Education and Research, Kolkata, India., Biswas T; Department of Pediatrics, Institute of Post Graduate Medical Education and Research, Kolkata, India., Ghoshal A; Department of Pediatrics, Institute of Post Graduate Medical Education and Research, Kolkata, India., Sarkar S; Department of Pediatrics, Institute of Post Graduate Medical Education and Research, Kolkata, India.

المصدر: The International journal of neuroscience [Int J Neurosci] 2024 Jun; Vol. 134 (3), pp. 253-255. Date of Electronic Publication: 2022 Aug 26.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 0270707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1563-5279 (Electronic) Linking ISSN: 00207454 NLM ISO Abbreviation: Int J Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Myasthenic Syndromes, Congenital*/diagnosis , Myasthenic Syndromes, Congenital*/drug therapy , Myasthenic Syndromes, Congenital*/genetics, Humans ; Siblings ; Albuterol ; Heterozygote ; Mutation

المؤلفون: Muntadas JA; Pediatric Neurology, Hospital Italiano, Gascon 450. Capital Federal, Buenos Aires, 4959-0200, Argentina., Hyland MR; Pediatric Neurology, Hospital Italiano, Gascon 450. Capital Federal, Buenos Aires, 4959-0200, Argentina., Martínez MDRO; Pediatric Neurology, Hospital Italiano, Gascon 450. Capital Federal, Buenos Aires, 4959-0200, Argentina., Young JN; Department of Neurology, University of California Davis, 1515 Newton Court, Davis, CA, 95618, USA., Chong JX; Brotman Baty Institute for Precision Medicine, 1959 NE Pacific St, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4245 Roosevelt Way NE, Seattle, WA, 98105, USA., Bamshad MJ; Department of Genome Sciences, University of Washington, William H. Foege Hall, 3720 15th Ave NE, Seattle, WA, 98195, USA.; Brotman Baty Institute for Precision Medicine, 1959 NE Pacific St, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4245 Roosevelt Way NE, Seattle, WA, 98105, USA., Maselli RA; Department of Neurology, University of California Davis, 1515 Newton Court, Davis, CA, 95618, USA. ramaselli@ucdavis.edu.

المصدر: BMC medical genomics [BMC Med Genomics] 2024 Aug 12; Vol. 17 (1), pp. 207. Date of Electronic Publication: 2024 Aug 12.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Myasthenic Syndromes, Congenital*/genetics, Humans ; Male ; Mutation ; Symporters/genetics ; Child ; Child, Preschool

المؤلفون: Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. Electronic address: daniel.natera@sjd.es., Pugliese A; IRCCS Centro Neurolesi 'Bonino-Pulejo', Neurology Unit, Messina, Italy., Polavarapu K; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Guergueltcheva V; Clinic of Neurology, University Hospital Sofiamed, Sofia University St. Kliment Ohridski, Sofia, Bulgaria., Tournev I; Department of Neurology, University Hospital 'Alexandrovska', Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria., Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria; Department of Medical Chemistry and Biochemistry, Sofia Medical University, Sofia, Bulgaria., Afonso Ribeiro J; Neurology Department, Coimbra University Hospital Centre, Coimbra, Portugal., Fernández-Mayoralas DM; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain., Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Martorell L; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Estévez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Laboratory of Neurogenetics and Molecular Medicine-IPER, Sant Joan de Deu Research Institute, Barcelona, Spain., Matalonga L; Centro Nacional de Análisis Genómico, Barcelona, Spain., Laurie S; Centro Nacional de Análisis Genómico, Barcelona, Spain., Jou C; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Lau J; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Thompson R; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Shen X; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota., Engel AG; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota., Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Lochmüller H; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Laboratory of Neurogenetics and Molecular Medicine-IPER, Sant Joan de Deu Research Institute, Barcelona, Spain; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Selcen D; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota. Electronic address: selcen.duygu@mayo.edu.

المصدر: Pediatric neurology [Pediatr Neurol] 2024 Aug; Vol. 157, pp. 5-13. Date of Electronic Publication: 2024 May 09.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Myasthenic Syndromes, Congenital*/drug therapy , Myasthenic Syndromes, Congenital*/genetics , Myasthenic Syndromes, Congenital*/physiopathology , Amifampridine*/pharmacology , Vesicle-Associated Membrane Protein 1*/genetics , Phenotype*, Humans ; Female ; Male ; Child ; Adolescent ; 4-Aminopyridine/analogs & derivatives ; 4-Aminopyridine/pharmacology ; 4-Aminopyridine/therapeutic use ; Child, Preschool ; Potassium Channel Blockers/pharmacology ; Potassium Channel Blockers/therapeutic use ; Infant

المؤلفون: Peterson E; Department of Genetics and Biochemistry, College of Science, Clemson University, Clemson, South Carolina, USA., Rudolph TE; Department of Pathology, College of Veterinary Medicine, University of Georgia, Athens, Georgia, USA., Starr-Moss A; Department of Genetics and Biochemistry, College of Science, Clemson University, Clemson, South Carolina, USA., Anderson K; Department of Genetics and Biochemistry, College of Science, Clemson University, Clemson, South Carolina, USA., Lennon VA; Departments of Laboratory Medicine, Immunology and Neurology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., Shelton GD; Department of Pathology, School of Medicine, University of California San Diego, La Jolla, California, USA., Clark LA; Department of Genetics and Biochemistry, College of Science, Clemson University, Clemson, South Carolina, USA.; Department of Pathology, College of Veterinary Medicine, University of Georgia, Athens, Georgia, USA.

المصدر: Animal genetics [Anim Genet] 2024 Aug; Vol. 55 (4), pp. 702-704. Date of Electronic Publication: 2024 Jun 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8605704 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2052 (Electronic) Linking ISSN: 02689146 NLM ISO Abbreviation: Anim Genet Subsets: MEDLINE

مواضيع طبية MeSH: Dog Diseases*/genetics , Myasthenic Syndromes, Congenital*/genetics , Myasthenic Syndromes, Congenital*/veterinary, Animals ; Dogs/genetics ; Receptors, Nicotinic/genetics ; Male ; Mutation ; Serine/genetics

المؤلفون: Leventoğlu E; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey. dremrelevent@gmail.com., Dönmez E; Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey., Uzun Kenan B; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey., Yazıcıoğlu B; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey., Büyükkaragöz B; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey., Fidan K; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey., Bakkaloğlu SA; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey., Söylemezoğlu O; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey.

المصدر: CEN case reports [CEN Case Rep] 2024 Aug; Vol. 13 (4), pp. 258-263. Date of Electronic Publication: 2023 Dec 01.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer Japan Country of Publication: Japan NLM ID: 101636244 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2192-4449 (Electronic) Linking ISSN: 21924449 NLM ISO Abbreviation: CEN Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Laminin*/genetics , Nephrotic Syndrome*/genetics , Nephrotic Syndrome*/diagnosis , Pupil Disorders*/genetics , Pupil Disorders*/diagnosis , Mutation* , Myasthenic Syndromes, Congenital*/genetics , Myasthenic Syndromes, Congenital*/diagnosis , Eye Abnormalities*/genetics , Eye Abnormalities*/diagnosis, Humans ; Female ; Male ; Phenotype ; Infant ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/diagnosis ; Eyelids/abnormalities ; Eyelids/pathology ; Genetic Association Studies/methods ; Child, Preschool ; Infant, Newborn ; Child

SCR Disease Name: Pierson syndrome

المؤلفون: Ghosh R; Department of General Medicine, Burdwan Medical College & Hospital, Burdwan, West Bengal, India., Dubey S; Department of Neuromedicine, Institute of Post Graduate Medical Education & Research, Bangur Institute of Neurosciences, Kolkata, India., Roy D; Department of Biochemistry, All India Institute of Medical Sciences (AIIMS), Patna, Bihar, India.; Indian Institute of Technology (IIT), Madras, Tamil Nadu, India.; School of Sciences, Indira Gandhi National Open University, New Delhi, India., Mayo S; Department of Genetics, University Hospital '12 de Octubre,', Madrid, Spain., Benito-León J; Department of Neurology, University Hospital '12 de Octubre,', Madrid, Spain. jbenitol67@gmail.com.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. jbenitol67@gmail.com.; Department of Medicine, Faculty of Medicine, Complutense University, Madrid, Spain. jbenitol67@gmail.com.; Instituto de Investigación Sanitaria Hospital '12 de Octubre,' (imas12), Madrid, Spain. jbenitol67@gmail.com.

المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Jul; Vol. 45 (7), pp. 3555-3558. Date of Electronic Publication: 2024 Feb 27.

نوع المنشور: Letter; Case Reports

بيانات الدورية: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Myasthenic Syndromes, Congenital*/drug therapy , Myasthenic Syndromes, Congenital*/genetics , Phenotype* , Albuterol*/therapeutic use , Mutation*, Humans ; Demyelinating Diseases/drug therapy ; Demyelinating Diseases/genetics ; Male ; Female ; Receptors, Cholinergic/genetics ; Adrenergic beta-2 Receptor Agonists/therapeutic use

المؤلفون: Tian S; Xuzhou Medical University, Xuzhou, China., Sun H; Xuzhou Medical University, Xuzhou, China., Gao FF; Xuzhou Medical University, Xuzhou, China., Zhang K; Xuzhou Medical University, Xuzhou, China., Nan J; Xuzhou Medical University, Xuzhou, China., Niu M; The Affiliated Hospital of Xuzhou Medical University, Xuzhou Medical College Affiliated Hospital, Xuzhou, China., Jia X; The Affiliated Hospital of Xuzhou Medical University, Xuzhou Medical College Affiliated Hospital, Xuzhou, China., Xu G; The Affiliated Hospital of Xuzhou Medical University, Xuzhou Medical College Affiliated Hospital, Xuzhou, China., Ge W; The Affiliated Hospital of Xuzhou Medical University, Xuzhou Medical College Affiliated Hospital, Xuzhou, China. gw1003@163.com.

المصدر: BMC neurology [BMC Neurol] 2024 Jun 17; Vol. 24 (1), pp. 206. Date of Electronic Publication: 2024 Jun 17.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Myasthenic Syndromes, Congenital*/genetics , Myasthenic Syndromes, Congenital*/diagnosis, Humans ; Male ; Mutation ; Pedigree ; Adult ; Genetic Testing/methods ; Female ; Symporters/genetics

المؤلفون: Bhalla K; Laboratory for Biochemical Neuroendocrinology, Department of Human genetics, KU Leuven, 3000 Leuven, Belgium., Rosier K; Laboratory for Biochemical Neuroendocrinology, Department of Human genetics, KU Leuven, 3000 Leuven, Belgium., Monnens Y; Laboratory for Biochemical Neuroendocrinology, Department of Human genetics, KU Leuven, 3000 Leuven, Belgium., Meulemans S; Laboratory for Biochemical Neuroendocrinology, Department of Human genetics, KU Leuven, 3000 Leuven, Belgium., Vervoort E; Laboratory for Cell Death Research & Therapy, VIB, Department of Cellular and Molecular Medicine, Center for Cancer Biology, KU Leuven, 3000 Leuven, Belgium., Thorrez L; Department of Development and Regeneration, KU Leuven Campus Kulak, 8500 Kortrijk, Belgium., Agostinis P; Laboratory for Cell Death Research & Therapy, VIB, Department of Cellular and Molecular Medicine, Center for Cancer Biology, KU Leuven, 3000 Leuven, Belgium., Meier DT; Clinic of Endocrinology, Diabetes and Metabolism, University Hospital Basel, Department of Biomedicine, University of Basel, Basel, Switzerland., Rochtus A; Department of Development and Regeneration, UZ Leuven, 3000 Leuven, Belgium., Resnick JL; Department of Molecular genetics & Microbiology, College of Medicine, University of Florida, Gainesville, FL 32610, USA., Creemers JWM; Laboratory for Biochemical Neuroendocrinology, Department of Human genetics, KU Leuven, 3000 Leuven, Belgium. Electronic address: john.creemers@kuleuven.be.

المصدر: Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2024 Jun; Vol. 1870 (5), pp. 167175. Date of Electronic Publication: 2024 Apr 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-260X (Electronic) Linking ISSN: 09254439 NLM ISO Abbreviation: Biochim Biophys Acta Mol Basis Dis Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/metabolism , Prader-Willi Syndrome*/genetics , Prader-Willi Syndrome*/pathology , Myasthenic Syndromes, Congenital*/genetics , Myasthenic Syndromes, Congenital*/metabolism , Myasthenic Syndromes, Congenital*/pathology , Mice, Knockout* , Prolyl Oligopeptidases*/metabolism, Animals ; Humans ; Mice ; HEK293 Cells ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Mitochondria/metabolism ; Mitochondria/pathology ; Mitochondria/genetics ; Metabolic Networks and Pathways/genetics ; Disease Models, Animal ; Ubiquinone/analogs & derivatives ; Ubiquinone/metabolism ; Serine Endopeptidases/metabolism ; Serine Endopeptidases/genetics ; Male ; Female

المؤلفون: Yıldırım M; Department of Pediatric Neurology, Ankara University Faculty of Medicine, Ankara, Turkey., Yarenci GB; Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey., Genç MB; Ankara University Faculty of Medicine, Ankara, Turkey., Uçar Çİ; Department of Pediatric Neurology, Ankara University Faculty of Medicine, Ankara, Turkey., Bayav S; Department of Pediatric Pulmonology, Ankara University Faculty of Medicine, Ankara, Turkey., Tekin MN; Department of Pediatric Pulmonology, Ankara University Faculty of Medicine, Ankara, Turkey., Bektaş Ö; Department of Pediatric Neurology, Ankara University Faculty of Medicine, Ankara, Turkey., Teber S; Department of Pediatric Neurology, Ankara University Faculty of Medicine, Ankara, Turkey.

المصدر: Neuropediatrics [Neuropediatrics] 2024 Jun; Vol. 55 (3), pp. 200-204. Date of Electronic Publication: 2024 Mar 26.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE

مواضيع طبية MeSH: Myasthenic Syndromes, Congenital*/genetics , Myasthenic Syndromes, Congenital*/drug therapy , Myasthenic Syndromes, Congenital*/physiopathology , Myasthenic Syndromes, Congenital*/diagnosis , Vesicle-Associated Membrane Protein 1*/genetics, Humans ; Male ; Child ; Mutation, Missense