نتائج البحث - "Carla Babalini"

المصدر: The journal of clinical investigation
The Journal of clinical investigation 122 (2012): 538–544. doi:10.1172/JCI60560
info:cnr-pdr/source/autori:Montenegro G.; Rebelo A.P., Connell J.; Allison R.; Babalini C.; D'Aloia M.; Montieri P.; Schüle R.; Ishiura H.; Price J.; Strickland A.; Gonzalez M.A.; Baumbach-Reardon L.; Deconinck T.; Huang J.; Bernardi G.; Vance J.M.; Rogers M.T.; Tsuji S.; De Jonghe P.; Pericak-Vance M.A.; Schöls L.; Orlacchio A.; Reid E.; Züchner S./titolo:Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12/doi:10.1172%2FJCI60560/rivista:The Journal of clinical investigation/anno:2012/pagina_da:538/pagina_a:544/intervallo_pagine:538–544/volume:122
The journal of clinical investigation 122(2), 538-544 (2012). doi:10.1172/JCI60560

مصطلحات موضوعية: pathology [Spastic Paraplegia, Hereditary], Spastin, Settore MED/09 - Medicina Interna, DNA Mutational Analysis, Muscle Proteins, genetics [Muscle Proteins], Endoplasmic Reticulum, medicine.disease_cause, metabolism [Endoplasmic Reticulum], Spastic Paraplegia, genetics [Nerve Tissue Proteins], Exome sequencing, Adenosine Triphosphatases, Genetics, Mutation, Medicine (all), General Medicine, genetics [Adenosine Triphosphatases], genetics [Membrane Proteins], Hereditary, Research Article, Hereditary spastic paraplegia, ultrastructure [Endoplasmic Reticulum], metabolism [Muscle Proteins], Nerve Tissue Proteins, Biology, HeLa Cells, Humans, HEK293 Cells, Spastic Paraplegia, Hereditary, Membrane Proteins, Frameshift mutation, genetics [Spastic Paraplegia, Hereditary], physiopathology [Spastic Paraplegia, Hereditary], RTN2 protein, human, SPAST protein, human, medicine, ddc:610, Gene, metabolism [Nerve Tissue Proteins], medicine.disease, Membrane protein, Reticulon, Human medicine, metabolism [Adenosine Triphosphatases], metabolism [Membrane Proteins]

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79adc26c3da7a07c507da53f4135f3afTest
https://doi.org/10.1172/jci60560Test

5

Restriction Fragment Length Polymorphisms of Type I Collagen Locus 2 (COL1A2) in Two Communities of African Ancestry and Other Mixed Populations of Northwestern Ecuador

المؤلفون: Emiliano Trucchi, Cristina Martínez-Labarga, R Casalotti, Gianfranco Biondi, Fabio Renzi, Olga Rickards, Carla Babalini, Guglielmina Pepe, Gianfranco De Stefano

المصدر: Scopus-Elsevier

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acf595572b8c227f834e9f62a6438858Test
https://doi.org/10.1353/hub.2005.0031Test

6

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

المؤلفون: Carla Babalini, Giorgio Bernardi, Toshitaka Kawarai, Antonio Orlacchio, Pasqua Montieri, F. Gaudiello

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20644368ff68c642090ff7d39b4d99f6Test
http://hdl.handle.net/2108/79675Test

7

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

المؤلفون: Carla Babalini, Roberto Massa, Renato P. Munhoz, Ekaterina Rogaeva, Sarenur Basaran, Peter St George-Hyslop, C. Patrono, Giorgio Bernardi, Toshitaka Kawarai, Antonio Orlacchio, Antonella Borreca

المصدر: Brain

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis, Hereditary spastic paraplegia, Genes, Recessive, Neuropathology, medicine.disease_cause, Corpus callosum, Degenerative disease, spatacsin, medicine, Humans, Amyotrophic lateral sclerosis, hereditary spastic paraplegia, Mutations, Spatacsin, Age Factors, Amyotrophic Lateral Sclerosis, Female, Middle Aged, Mutation, Pedigree, Proteins, Neurology (clinical), genes, business.industry, recessive, Original Articles, medicine.disease, Fazio–Londe disease, mutations, male, age factors, middle aged, mutation, female, genes, recessive, proteins, adult, pedigree, humans, Settore MED/26 - Neurologia, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e146fd81c4c745d9f845d3d462d47902Test
https://pubmed.ncbi.nlm.nih.gov/20110243Test

8

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

المؤلفون: Marco Seri, Antonio Orlacchio, Pasquale Montagna, T. Kawarai, Vincenzo Donadio, Eva Pompilii, Roberta Zuntini, Giorgio Bernardi, C. Patrono, Rocco Liguori, Emanuele Panza, Tommaso Pippucci, Antonella Borreca, Carla Babalini, Giovanni Romeo

المساهمون: Pippucci T., Panza E., Pompilii E., Donadio V., Borreca A., Babalini C., Patrono C., Zuntini R., Kawarai T., Bernardi G., Liguori R., Romeo G., Montagna P., Orlacchio A., Seri M.

المصدر: European journal of neurology. 16(1)

مصطلحات موضوعية: Adult, Male, Splice site mutations, Thinning of the corpus callosum, Adolescent, Hereditary spastic paraplegia, Locus (genetics), Nervous System Malformations, Exon, Young Adult, Genetic linkage, Locus heterogeneity, Linkage analysis, SPG11, Agenesis of Corpus Callosum, Female, Genetic Predisposition to Disease, Humans, Mutation, Pedigree, Proteins, Spastic Paraplegia, Hereditary, Neurology (clinical), Neurology, Spastic Paraplegia, Medicine, Gene, Genetics, business.industry, Genetic heterogeneity, Haplotype, hereditary spastic paraplegia, linkage analysis, splice site mutations, thinning of the corpus callosum, medicine.disease, Hereditary, Settore MED/26 - Neurologia, business