المؤلفون: Meredith K. Gillespie, Hugh J. McMillan, Izabella A. Pena, Kym M. Boycott, Kristin D. Kernohan, Rebecca Meyer-Schuman, Anthony Antonellis

المصدر: Journal of Neuromuscular Diseases

مصطلحات موضوعية: 0301 basic medicine, Neuromuscular disease, Case Report, Methionine-tRNA Ligase, Disease, Biology, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease type 2U, medicine, Humans, Child, Gene, Exome sequencing, Genetics, Genetic heterogeneity, CMT2U, MARS, medicine.disease, Phenotype, Protein Structure, Tertiary, 3. Good health, Congenital onset, 030104 developmental biology, Neurology, Mutation, early-onset neuropathy, Female, Neurology (clinical), exome sequencing, Novel mutation, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fbf32b4dace6cfc83bcb10b0bed0e8cTest
https://doi.org/10.3233/jnd-190404Test

المؤلفون: Fusco C., Ucchino V., Barbon G., Bonini E., Mostacciuolo M. L., Frattini D., Pisani F., Giustina E. D.

المساهمون: Fusco, C., Ucchino, V., Barbon, G., Bonini, E., Mostacciuolo, M. L., Frattini, D., Pisani, F., Giustina, E. D.

مصطلحات موضوعية: Charcot-Marie-Tooth 4A, early-onset neuropathy, ganglioside-induced differentiation-associated protein 1(GDAP1) gene

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000286008600009; volume:26; issue:1; firstpage:49; lastpage:57; numberofpages:9; journal:JOURNAL OF CHILD NEUROLOGY; https://hdl.handle.net/11573/1670145Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-78651288415

الإتاحة: https://doi.org/10.1177/0883073810373142Test
https://hdl.handle.net/11573/1670145Test

المؤلفون: Elena Bonini, Maria Luisa Mostacciuolo, Elvio Della Giustina, Valentina Ucchino, Daniele Frattini, Giovanni Barbon, Francesco Pisani, Carlo Fusco

المصدر: Journal of child neurology. 26(1)

مصطلحات موضوعية: Male, Nerve Tissue Proteins, Disease, medicine.disease_cause, Polymorphism, Single Nucleotide, GDAP1 gene, Charcot-Marie-Tooth Disease, medicine, Humans, Child, Gene, Inherited neuropathy, Genetics, Neurologic Examination, Mutation, Ganglioside, Charcot-Marie-Tooth 4A, Genetic heterogeneity, business.industry, Homozygote, Infant, early-onset neuropathy, ganglioside-induced differentiation-associated protein 1(GDAP1) gene, Very early onset, Genetic mutations, Child, Preschool, Pediatrics, Perinatology and Child Health, Immunology, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c170a35a51eb3f132bf75bc56f74c3f9Test
https://pubmed.ncbi.nlm.nih.gov/21212451Test

المؤلفون: MAZZEO, Anna, RODOLICO, Carmelo, TOSCANO, Antonio, MESSINA, Corrado, VITA, Giuseppe, MUGLIA M, PATITUCCI A, QUATTRONE A

المساهمون: Mazzeo, Anna, Muglia, M, Rodolico, Carmelo, Toscano, Antonio, Patitucci, A, Quattrone, A, Messina, Corrado, Vita, Giuseppe

مصطلحات موضوعية: Charcot-Marie-Tooth disease, early-onset neuropathy, late-onset neuropathy, MPZ mutation

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18422810; info:eu-repo/semantics/altIdentifier/wos/WOS:000259814100008; volume:118; issue:5; firstpage:328; lastpage:332; numberofpages:5; journal:ACTA NEUROLOGICA SCANDINAVICA; http://hdl.handle.net/11570/1863187Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-53549100189

الإتاحة: https://doi.org/10.1111/j.1600-0404.2008.01021.xTest
http://hdl.handle.net/11570/1863187Test

المؤلفون: Anna Mazzeo, Aldo Quattrone, Giuseppe Vita, Alessandra Patitucci, Carmelo Rodolico, Antonio Toscano, Corrado Messina, M. Muglia

المصدر: Acta neurologica Scandinavica 118 (2008): 328–332.
info:cnr-pdr/source/autori:Mazzeo A, Muglia M, Rodolico C, Toscano A, Patitucci A, Quattrone A, Messina C, Vita G./titolo:Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families./doi:/rivista:Acta neurologica Scandinavica/anno:2008/pagina_da:328/pagina_a:332/intervallo_pagine:328–332/volume:118

مصطلحات موضوعية: Adult, Male, Adolescent, DNA Mutational Analysis, Neural Conduction, Pedigree chart, Biology, Severity of Illness Index, Young Adult, Charcot-Marie-Tooth Disease, Leucine, medicine, Serine, Humans, Genetic Predisposition to Disease, Genetic Testing, Peripheral Nerves, Child, Genetic testing, Charcot-Marie-Tooth disease, early-onset neuropathy, late-onset neuropathy, MPZ mutation, Genetics, Polymorphism, Genetic, medicine.diagnostic_test, Myelin protein zero, Haplotype, General Medicine, Middle Aged, Charcot-Marie-Tooth Disease Type 1B, Pedigree, Phenotype, Neurology, Amino Acid Substitution, Italy, Genetic marker, Mutation (genetic algorithm), Mutation, Microsatellite, Female, Neurology (clinical), Myelin P0 Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41341383799ccc07d998037be9c637fdTest
http://www.cnr.it/prodotto/i/49969Test