Zobrazeno 1 - 10 of 383 pro vyhledávání: '"Also-Rallo E."'
1
Akademický článek
In Search of Spinal Muscular Atrophy Disease Modifiers.
Autor: Chudakova, Daria1 (AUTHOR), Kuzenkova, Ludmila1 (AUTHOR), Fisenko, Andrey1 (AUTHOR), Savostyanov, Kirill1 (AUTHOR) savostyanovkv@nczd.ru
Publikováno v: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 20, p11210. 16p.
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2
Effect of a commercial root growth enhancer on the turfgrass species 'Lolium perenne' and the weed 'Poa annua'
Autor: Gómez De Barreda, D., Bolumar, J., Rallo, E., Luca, V. de
Se pretende comprobar si la aplicación de un enraizante durante la resiembra otoñal de la cespitosa “Lolium perenne” sobre las calles de los campos de golf conformados por “Cynodon dactylon”, favoreciese la competencia de “L. perenne” f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3272::e87b84be0a88121cc9deb1623dfa7d3e
https://idus.us.es/xmlui/handle/11441/32601
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3
Efecto de un enraizante comercial sobre la cespitosa 'Lolium perenne' y la mala hierba 'Poa annua'
Autor: Gómez De Barreda, D., Bolumar, J., Rallo, E., Luca, V. de
Publikováno v: idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Se pretende comprobar si la aplicación de un enraizante durante la resiembra otoñal de la cespitosa “Lolium perenne” sobre las calles de los campos de golf conformados por “Cynodon dactylon”, favoreciese la competencia de “L. perenne” f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::e87b84be0a88121cc9deb1623dfa7d3e
https://idus.us.es/handle/11441/32601
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4
Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene
Autor: Alías L, Barceló MJ, Bernal S, Martínez-Hernández R, Also-Rallo E, Vázquez C, Santana A, Millán JM, Baiget M, Tizzano EF
Publikováno v: CLINICAL GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron1 gene (SMN1). Global carrier frequency is around 1 in 50 and carrier detection is crucial to define couples at risk to have SMA offspring
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::55aa2dbc89318c2d780041a8b4b5f804
https://pubmed.ncbi.nlm.nih.gov/23799925
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5
Synaptic defects in type i spinal muscular atrophy in human development
Autor: Martínez-Hernández R., Bernal S., Also-Rallo E., Alías L., Barcelõ M., Hereu M., Esquerda J.E., Tizzano E.F.
Publikováno v: JOURNAL OF PATHOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Childhood spinal muscular atrophy is an autosomal recessive neuromuscular disorder caused by alterations in the Survival Motor Neuron 1 gene that triggers degeneration of motor neurons within the spinal cord. Spinal muscular atrophy is the second mos
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::0f68fec532e86e4db749c5bd97e5c624
https://www.scopus.com/inward/record.uri?eid=2-s2.0-84872862067&doi=10.1002/path.4080&partnerID=40&md5=b82225a8708f0e45dd6754d5a0f01882
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6
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy
Autor: Lim, YM, Koh, I, Park, YM, Kim, JJ, Kim, DS, Kim, HJ, Baik, KH, Choi, HY, Yang, GS, Also-Rallo, E, Tizzano, EF, Gamez, J, Park, K, Yoo, HW, Lee, JK, Kim, KK
Publikováno v: NEUROMUSCULAR DISORDERS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
Precise topographic localization, predominance in males mostly of Asian origin, and existence of some familial cases suggest a genetic background for monomelic amyotrophy. To identify susceptibility genes for monomelic amyotrophy, we performed whole-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::f7f252e885ae031044975d2870f71481
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11378
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7
Akademický článek
Understanding the Role of the SMN Complex Component GEMIN5 and Its Functional Relationship with Demethylase KDM6B in the Flunarizine-Mediated Neuroprotection of Motor Neuron Disease Spinal Muscular Atrophy.
Autor: Salman, Badih1 (AUTHOR) badih.salman@inserm.fr, Bon, Emeline1 (AUTHOR) emeline.bon@etu.u-paris.fr, Delers, Perrine1 (AUTHOR) perrine.delers@u-paris.fr, Cottin, Steve1 (AUTHOR) steve.cottin@gmail.com, Pasho, Elena2 (AUTHOR) elena.pasho@institutimagine.org, Ciura, Sorana2 (AUTHOR) sorana.ciura@institutimagine.org, Sapaly, Delphine1 (AUTHOR) delphine.sapaly@u-paris.fr, Lefebvre, Suzie1 (AUTHOR) suzie.lefebvre@inserm.fr
Publikováno v: International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 18, p10039. 23p.
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8
Akademický článek
Association of serum homocysteine with vitamin B12 and folate levels in women with pre-eclampsia in a tertiary health care center in Nepal.
Autor: Yadav, Binod Kumar1 (AUTHOR), Maskey, Suvana1 (AUTHOR), Bhattarai, Aseem1 (AUTHOR), Pradhananga, Salina2 (AUTHOR) drsalinapradhananga@gmail.com, Shakya, Sabina3 (AUTHOR), Regmi, Astha4 (AUTHOR)
Publikováno v: BMC Women's Health. 8/9/2024, Vol. 24 Issue 1, p1-5. 5p.
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9
The c.859G > C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
Autor: Bernal, S, Alias, L, Barcelo, MJ, Also-Rallo, E, Martinez-Hernandez, R, Gamez, J, Guillen-Navarro, E, Rosell, J, Hernando, I, Rodriguez-Alvarez, FJ, Borrego, S, Millan, JM, Hernandez-Chico, C, Baiget, M, Fuentes-Prior, P, Tizzano, EF
Publikováno v: JOURNAL OF MEDICAL GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Homozygous mutations of the telomeric SMN1 gene lead to degeneration of motor neurons causing spinal muscular atrophy (SMA). A highly similar centromeric gene (SMN2) can only partially compensate for SMN1 deficiency. The c.859G>C variant in SMN2 has
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::a742f3037b4a41cdf62b2892f2111046
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12596
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10
Akademický článek
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