المؤلفون: Xueping Chen, Jiao Liu, Qian-Qian Wei, Ru Wei Ou, Bei Cao, Xiaoqin Yuan, Yanbing Hou, Lingyu Zhang, Huifang Shang

المصدر: BMC Neurology, Vol 20, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Autosomal recessive hereditary spastic paraplegia, Spastic paraplegia type 11, Genetic spectrum, Phenotypic spectrum, Autosomal-recessive juvenile amyotrophic lateral sclerosis, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/293bcac9329643879d83bbf9a1d98dec

المؤلفون: Marzieh Khani, Hosein Shamshiri, Farzad Fatehi, Mohammad Rohani, Bahram Haghi Ashtiani, Fahimeh Haji Akhoundi, Afagh Alavi, Hamidreza Moazzeni, Hanieh Taheri, Mina Tolou Ghani, Leila Javanparast, Seyyed Saleh Hashemi, Ramona Haji‐Seyed‐Javadi, Matineh Heidari, Shahriar Nafissi, Elahe Elahi

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)

مصطلحات موضوعية: ALS, ARHSP, autosomal recessive hereditary spastic paraplegia, juvenile amyotrophic lateral sclerosis, SPG11, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/17893aa063484e249714d0aee191d73f

المؤلفون: Kishin Koh, Hiroyuki Ishiura, Haruo Shimazaki, Michiko Tsutsumiuchi, Yuta Ichinose, Haitian Nan, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)

مصطلحات موضوعية: autosomal recessive hereditary spastic paraplegia, complicated form, pure form, VPS13D‐related disorders, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/9a9f5423d0174287ad053d9e3b0da0d6

المؤلفون: Vinícius Boaratti Ciarlariello, Alzira Alves de Siqueira Carvalho, Izadora Fonseca Zaiden Soares, David Feder

المصدر: Neurocase. 27:253-258

مصطلحات موضوعية: Psychosis, Hereditary spastic paraplegia, Bioinformatics, Compound heterozygosity, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, Arts and Humanities (miscellaneous), medicine, Humans, Cognitive Dysfunction, 0501 psychology and cognitive sciences, business.industry, 05 social sciences, Metalloendopeptidases, Cognition, medicine.disease, Phenotype, nervous system diseases, Psychotic Disorders, Cerebellar cognitive affective syndrome, Mutation, Autosomal Recessive Hereditary Spastic Paraplegia, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), business, Spastic paraplegia type 7, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7ce1a945864d95a90c7172fa2f99081
https://doi.org/10.1080/13554794.2021.1927114

المؤلفون: Tal Shachar, Mor Saban

المصدر: Current Pharmacogenomics and Personalized Medicine. 17:211-215

مصطلحات موضوعية: Pharmacology, Genetics, Variation (linguistics), Rare case, Autosomal Recessive Hereditary Spastic Paraplegia, Molecular Medicine, Biology, Molecular Biology, Phenotype, Genetics (clinical), nervous system diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dfc5fd3f7707cbb8f03399f83781d9fc
https://doi.org/10.2174/1875692117999201211142908

المؤلفون: Hamidreza Moazzeni, Hanieh Taheri, Seyyed Saleh Hashemi, Farzad Fatehi, Shahriar Nafissi, Mina Tolou Ghani, Elahe Elahi, Afagh Alavi, Fahimeh Haji Akhoundi, Leila Javanparast, Hosein Shamshiri, Ramona Haji-Seyed-Javadi, Marzieh Khani, Matineh Heidari, Mohammad Rohani, Bahram Haghi Ashtiani

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)

مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Pathology, medicine.medical_specialty, lcsh:QH426-470, Electrodiagnosis, ARHSP, Adolescent, Juvenile amyotrophic lateral sclerosis, 030105 genetics & heredity, medicine.disease_cause, Corpus Callosum, Diagnosis, Differential, 03 medical and health sciences, juvenile amyotrophic lateral sclerosis, Genetics, medicine, Humans, Genetic Testing, Molecular Biology, Exome, Genetics (clinical), Mutation, autosomal recessive hereditary spastic paraplegia, medicine.diagnostic_test, business.industry, SPG11, Spastic Paraplegia, Hereditary, Proteins, Magnetic resonance imaging, Original Articles, Phenotype, Magnetic Resonance Imaging, lcsh:Genetics, 030104 developmental biology, Autosomal Recessive Hereditary Spastic Paraplegia, Original Article, Female, ALS, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8450f32b9b2e9e38a9dc4cb5d8a1b908
http://europepmc.org/articles/PMC7336765

المؤلفون: Zhang, Linwei, McFarland, Karen, Jiao, Jinsong, Jiao, Yujuan

مصطلحات موضوعية: Autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSP-TCC), SPG11, Gene mutation, Heterozygous mutations

Relation: http://www.biomedcentral.com/1471-2377/16/87

الاتاحة: http://www.biomedcentral.com/1471-2377/16/87

المؤلفون: Yang Xu, Li Wu, Qingxuan Lai, Qin Wang, Jian-Ren Liu, You-Rong Dong, Zhi-Ping Xie, Wei Chen, Ilya A. Vinnikov

مصطلحات موضوعية: Genetics, Mutation (genetic algorithm), Autophagy, Autosomal Recessive Hereditary Spastic Paraplegia, Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::736dd8a30ea2c62914781aa2d4abd63e
https://doi.org/10.21203/rs.3.rs-136140/v1

المؤلفون: Giorgio Arrigoni, James E. Tomkins, Federica Forcellato, Laura Civiero, Nikoleta Vavouraki, Patrick A. Lewis, Laura Cendron, Elisa Greggio, Isabella Tessari, Susanna Cogo, Cinzia Franchin, Claudia Manzoni

مصطلحات موضوعية: Spastic Paraplegia, Hereditary, 14-3-3s, Hereditary spastic paraplegia (HSP), Intracellular trafficking, Protein Kinase A (PKA), Protein-protein interactions (PPI), SPG11/Spatacsin, Proteins, Endogeny, Biology, Proteomics, Cyclic AMP-Dependent Protein Kinases, Corpus Callosum, Cell biology, Neurology, 14-3-3 Proteins, Mutation, Autosomal Recessive Hereditary Spastic Paraplegia, Humans, Phosphorylation, CRISPR, Loss function

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e79da9413b2dd5b9309b1c1188b542c
https://doi.org/10.1101/2020.09.09.289009

المؤلفون: Neelam S Patil, Rahul T Chakor

المصدر: Annals of Indian Academy of Neurology
Annals of Indian Academy of Neurology, Vol 24, Iss 2, Pp 272-275 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Autosomal Recessive Hereditary Spastic Paraplegia, medicine, Neurology. Diseases of the nervous system, Neurology (clinical), RC346-429, business, Letters to the Editor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3483f5faf31a321e174aee205fe66f02
https://pubmed.ncbi.nlm.nih.gov/34220084

المؤلفون: Marie Trkova, Pavel Seeman, Jana Lastuvkova, Dana Safka Brozkova, Radim Mazanec, Inna Soldatova, Martina Bittoova, Anna Uhrova Meszarosova, Martin Vyhnalek

المصدر: Journal of Clinical Neuroscience. 59:337-339

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Hereditary spastic paraplegia, Genes, Recessive, Mixed Function Oxygenases, 03 medical and health sciences, Dysarthria, 0302 clinical medicine, Physiology (medical), Spastic, Humans, Medicine, Gene, Massive parallel sequencing, Spastic Paraplegia, Hereditary, business.industry, Homozygote, General Medicine, medicine.disease, White matter changes, Pedigree, nervous system diseases, Neurology, 030220 oncology & carcinogenesis, Mutation, Autosomal Recessive Hereditary Spastic Paraplegia, Surgery, Neurology (clinical), medicine.symptom, business, Paraplegia, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e859ba6b570264f6fdc1cf8da358c20
https://doi.org/10.1016/j.jocn.2018.10.094

المؤلفون: Shoji Tsuji, Yoshihisa Takiyama, Michiko Tsutsumiuchi, Hiroyuki Ishiura, Toshihisa Ohtsuka, Yuta Ichinose, Shun Hamada, Kishin Koh, Haruo Shimazaki, Haitian Nan

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)

مصطلحات موضوعية: 0301 basic medicine, Adult, lcsh:QH426-470, Hereditary spastic paraplegia, complicated form, 030105 genetics & heredity, Compound heterozygosity, Clinical Reports, 03 medical and health sciences, VPS13D‐related disorders, Genetics, Spastic, medicine, Humans, Molecular Biology, Genetics (clinical), Chorea acanthocytosis, Aged, Dystonia, Paraplegia, autosomal recessive hereditary spastic paraplegia, Clinical Report, Cerebellar ataxia, pure form, business.industry, Proteins, Chorea, Middle Aged, medicine.disease, nervous system diseases, VPS13B, lcsh:Genetics, 030104 developmental biology, Phenotype, Immunology, Mutation, Female, medicine.symptom, business, Lysophospholipase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e68d1e4461753b22b685fdc5e3d85839
http://europepmc.org/articles/PMC7057107

المؤلفون: Alberto R. M. Martinez, Marcondes Cavalcante França Junior, Thiago Junqueira Ribeiro de Rezende, Ana Luisa de Carvalho Cardozo Hernández, Ingrid Faber

المصدر: Resumos do....

مصطلحات موضوعية: medicine.medical_specialty, Ataxia, business.industry, Disease, Hypothalamic atrophy, Endocrinology, Hypothalamus, Internal medicine, Metabolic control analysis, Autosomal Recessive Hereditary Spastic Paraplegia, Medicine, In patient, medicine.symptom, business, Weight gain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d0ad0347cf2c4f426a539074c6f05c9a
https://doi.org/10.20396/revpibic2720192200

المؤلفون: Taghrid El Hajj, Mukbil Hourani, Wissam Barada, Bassem Yamout, Roula Hourani

المصدر: European Journal of Radiology Extra. 65:37-41

مصطلحات موضوعية: medicine.diagnostic_test, Hereditary spastic paraplegia, business.industry, Posterior displacement, Magnetic resonance imaging, Anatomy, Spinal cord, medicine.disease, Posterior column, medicine.anatomical_structure, Atrophy, medicine, Autosomal Recessive Hereditary Spastic Paraplegia, Radiology, Nuclear Medicine and imaging, business, Mri findings

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4062926e2f9f37e22a8c2f2cb221d8a5
https://doi.org/10.1016/j.ejrex.2007.11.009

المؤلفون: Felipe Torres Pacheco, Antônio José da Rocha, José Iram Mendonça do Rego, Milena Morais Rego

المصدر: Journal of Neuroimaging. 24:205-207

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Corpus callosum, Neuroimaging, Corona radiata, Autosomal Recessive Hereditary Spastic Paraplegia, Medicine, Radiology, Nuclear Medicine and imaging, In patient, Neurology (clinical), Abnormality, business, Pathological, Diffusion MRI

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::926e881ed005798f43386da2f4bf88c3
https://doi.org/10.1111/j.1552-6569.2012.00714.x

المؤلفون: Craig Blackstone

مصطلحات موضوعية: Genetics, Paraplegin, Homologous chromosome, Autosomal Recessive Hereditary Spastic Paraplegia, Biology, Gene, Gene knockout, Spastic Paraplegias

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::43d10cb0334b435d249319ac4c96c4fc
https://doi.org/10.1016/b978-0-12-405195-9.00071-8

المؤلفون: Giovanni, Stevanin, Giorgia, Montagna, Hamid, Azzedine, Enza Maria Valente, Alexandra, Durr, Valentina, Scarano, Naima, Bouslam, Denise, Cassandrini, Denora, Paola S., Chiara, Criscuolo, Soraya, Belarbi, Antonio, Orlacchio, Philippe, Jonveaux, Gabriella, Silvestri, Anne Marie Ouvrad Hernandez, De Michele, G., Meriem, Tazir, Caterina, Mariotti, Knut, Brockmann, Alessandro, Malandrini, Van Der Knapp, M. S., Marcella, Neri, Hassan, Tonekaboni, Melone, Mariarosa A. B., Alessandra, Tessa, Teresa Dotti, M., Michela, Tosetti, Pauri, Flavia, Antonio, Federico, Casali, Carlo, Cruz, Vitor T., Loureiro, Jose L., Federico, Zara, Sylvie, Forlani, Enrico, Bertini, Paula, Coutinho, Alessandro, Filla, Alexis, Brice, Santorelli, Filippo M., Casali, C.

المساهمون: Neurologie et thérapeutique expérimentale, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unit of Molecular Medicine, IRCCS, Mendel Institute, Department of Neurological Sciences, University of Naples Federico II = Università degli studi di Napoli Federico II, Pediatric Neurology and Neuromuscular Diseases Unit, Università degli studi di Genova = University of Genoa (UniGe), Service de Neurologie, Hopital Mustapha, Department of Neurosciences, Università degli Studi di Roma Tor Vergata [Roma], Service de Génétique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Department of Neuroscience, Catholic University, Département de neurologie, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Besta Neurological Institute, Department of Pediatrics and Neuropediatrics, Georg-August-University = Georg-August-Universität Göttingen, Institute of Neurological Sciences, Department of Child Neurology, VU University Medical Center [Amsterdam], Medical Genetics, Università degli Studi di Ferrara = University of Ferrara (UniFE), Stella Maris, Department of Neurology and ORL, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Departamento de Neurologia, Hospital S. Sebastiao, ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Stevanin, G, Montagna, G, Azzedine, H, Valente, Em, Durr, A, Scarano, V, Bouslam, N, Cassandrini, D, Denora, P, Criscuolo, C, Belarbi, S, Orlacchio, A, Jonveaux, P, Silvestri, G, Hernandez, Am, DE MICHELE, G, Tazir, M, Mariotti, C, Brockmann, K, Malandrini, A, VAN DER KNAPP, M, Neri, M, Tonekaboni, H, Melone, Mariarosa Anna Beatrice, Tessa, A, Dotti, Mt, Tosetti, M, Pauri, F, Federico, A, Casali, C, Cruz, Vt, Loureiro, Jl, Zara, F, Forlani, S, Bertini, E, Coutinho, P, Filla, A, Brice, A, Santorelli, Fm, Pediatric surgery, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Napoli Federico II, Universita degli studi di Genova, Georg-August-University [Göttingen], Università degli Studi di Ferrara (UniFE), University of Naples Federico II, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome]

المصدر: neurogenetics
neurogenetics, 2006, 7 (3), pp.149-56. ⟨10.1007/s10048-006-0044-2⟩
Neurogenetics, 7(3), 149-156. Springer Verlag
neurogenetics, Springer Verlag, 2006, 7 (3), pp.149-56. ⟨10.1007/s10048-006-0044-2⟩
Stevanin, G, Montagna, G, Azzedine, H, Valente, E M, Durr, A, Scarano, V, Bouslam, N, Cassandrini, D, Denora, P S, Criscuolo, C, Belarbi, S, Orlacchio, A, Jonveaux, P, Silvestri, G, Hernandez, A M O, De Michele, G, Tazir, M, Mariotti, C, Brockmann, K, Malandrini, A, Van Der Knapp, M S, Neri, M, Tonekaboni, H, Melone, M A B, Tessa, A, Dotti, M T, Tosetti, M, Pauri, F, Federico, A, Casali, C, Cruz, V T, Loureiro, J L, Zara, F, Forlani, S, Bertini, E, Coutinho, P, Filla, A, Brice, A & Santorelli, F M 2006, ' Spastic paraplegia with thin corpus callosum : Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity ', Neurogenetics, vol. 7, no. 3, pp. 149-156 . https://doi.org/10.1007/s10048-006-0044-2

مصطلحات موضوعية: Male, Candidate gene, Genetic Linkage, Corpus Callosum, Consanguinity, Autosomal recessive hereditary spastic, Genetic heterogeneity, 0302 clinical medicine, MESH: Child, Spastic Paraplegia, Autosomal recessive hereditary spastic paraplegia, Linkage, SPG11, Thin corpus callosum, Adolescent, Child, Child, Preschool, Chromosomes, Human, Pair 15, Female, Humans, Infant, Lod Score, Pedigree, Phenotype, Spastic Paraplegia, Hereditary, Genes, Recessive, Genetic Heterogeneity, Genetics, Genetics (clinical), Cellular and Molecular Neuroscience, 0303 health sciences, MESH: Spastic Paraplegia, Hereditary, MESH: Genetic Heterogeneity, MESH: Infant, autosomal recessive hereditary spastic paraplegia, genetic heterogeneity, linkage, spg11, thin corpus callosum, Hereditary, Settore MED/26 - Neurologia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Human, Hereditary spastic paraplegia, MESH: Pedigree, Locus (genetics), Biology, MESH: Phenotype, MESH: Corpus Callosum, Chromosomes, 03 medical and health sciences, Gene mapping, Genetic linkage, medicine, Recessive, Preschool, MESH: Genes, Recessive, 030304 developmental biology, MESH: Adolescent, MESH: Consanguinity, Autosome, MESH: Humans, Thin corpus callosum, SPG11, Linkage, Haplotype, MESH: Child, Preschool, Pair 15, medicine.disease, MESH: Male, Genes, MESH: Lod Score, MESH: Linkage (Genetics), MESH: Female, 030217 neurology & neurosurgery, MESH: Chromosomes, Human, Pair 15

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebf7945c57ed1d41b6e14833120c532f
http://hdl.handle.net/11365/23934

المؤلفون: Francesca Luisa Conforti, Carmine Ungaro, Vito Sofia, Luigi Citrigno, Irene Pappalardo, Angela Magariello, M. Muglia, Alessandra Patitucci, Rosalucia Mazzei, Mario Zappia, M. Gonzalez, Stephan Züchner

المصدر: European journal of neurology
21 (2014). doi:10.1111/ene.12305
info:cnr-pdr/source/autori:Magariello A.; Citrigno L.; Zuchner S.; Gonzalez M.; Patitucci A.; Sofia V.; Conforti F.L.; Pappalardo I.; Mazzei R.; Ungaro C.; Zappia M.; Muglia M./titolo:Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum/doi:10.1111%2Fene.12305/rivista:European journal of neurology (Print)/anno:2014/pagina_da:/pagina_a:/intervallo_pagine:/volume:21

مصطلحات موضوعية: Genetics, Family Health, Male, business.industry, Spastic Paraplegia, Hereditary, Human genomics, Thin corpus callosum, Gene mutation, Middle Aged, Magnetic Resonance Imaging, Human genetics, Corpus Callosum, Neurology, Research council, Phospholipases, Mutation, Autosomal Recessive Hereditary Spastic Paraplegia, Medicine, Humans, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1389885fad6461a37a78d9140be7be1a
https://hdl.handle.net/20.500.11769/17002

المؤلفون: R. Del Bo, A. Di Fonzo, F. Locatelli, S. Corti, N. Bresolin, G.P. Comi, S. Ghezzi, G. Stevanin, A. Costa

المساهمون: R. Del Bo, A. Di Fonzo, S. Ghezzi, F. Locatelli, G. Stevanin, A. Costa, S. Corti, N. Bresolin, G.P. Comi

مصطلحات موضوعية: Autosomal recessive hereditary spastic paraplegia, Spatacsin, SPG11, Thin corpus callosum, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/17717710; info:eu-repo/semantics/altIdentifier/wos/WOS:000250380700008; volume:8; issue:4; firstpage:301; lastpage:305; journal:NEUROGENETICS; http://hdl.handle.net/2434/42118; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-35448976926

الاتاحة: http://hdl.handle.net/2434/42118
https://doi.org/10.1007/s10048-007-0095-z

المؤلفون: STEVANIN G, MONTAGNA G, AZZEDINE H, VALENTE EM, DURR A, SCARANO V, BOUSLAM N, CASSANDRINI D, DENORA PS, CRISCUOLO C, BELARBI S, ORLACCHIO A, JONVEAUX P, SILVESTRI G, HERNANDEZ AM, DE MICHELE G, TAZIR M, MARIOTTI C, BROCKMANN K, MALANDRINI, ALESSANDRO, VAN DER KNAPP MS, NERI M, TONEKABONI H, MELONE MA, TESSA A, DOTTI, MARIA, TOSETTI M, PAURI F, FEDERICO, ANTONIO, CASALI C, CRUZ VT, LOUREIRO JL, ZARA F, FORLANI S, BERTINI E, COUTINHO P, FILLA A, BRICE A, SANTORELLI FM

المساهمون: Stevanin, G, Montagna, G, Azzedine, H, Valente, Em, Durr, A, Scarano, V, Bouslam, N, Cassandrini, D, Denora, P, Criscuolo, C, Belarbi, S, Orlacchio, A, Jonveaux, P, Silvestri, G, Hernandez, Am, DE MICHELE, G, Tazir, M, Mariotti, C, Brockmann, K, Malandrini, Alessandro, VAN DER KNAPP, M, Neri, M, Tonekaboni, H, Melone, Ma, Tessa, A, Dotti, Maria, Tosetti, M, Pauri, F, Federico, Antonio, Casali, C, Cruz, Vt, Loureiro, Jl, Zara, F, Forlani, S, Bertini, E, Coutinho, P, Filla, A, Brice, A, Santorelli, Fm

مصطلحات موضوعية: autosomal recessive hereditary spastic paraplegia, thin corpus callosum, SPG11, linkage, genetic heterogeneity

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/16699786; info:eu-repo/semantics/altIdentifier/wos/WOS:000239043000003; volume:7; issue:3; firstpage:149; lastpage:156; numberofpages:8; journal:NEUROGENETICS; http://hdl.handle.net/11365/23934; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33746054137; http://www.springerlink.com/content/c2j53537052tw67w/

الاتاحة: http://hdl.handle.net/11365/23934
https://doi.org/10.1007/s10048-006-0044-2
http://www.springerlink.com/content/c2j53537052tw67w/