Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Amyotrophie spinale"'
Publikováno v:
African Journal of Neurological Sciences; Vol. 41 No. 1 (2022); 109-115
L’amyotrophie spinale proximale ou spinal muscular atrophy (SMA) est une maladie neuromusculaire autosomique récessive causée par des délétions ou des mutations du gène SMN1 situé sur le chromosome 5q. Elle est causée par une anomalie géné
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=78975075580c::dc651acd17c622472b19bbc933bacda4
https://www.ajol.info/index.php/ajns/article/view/245106
https://www.ajol.info/index.php/ajns/article/view/245106
Autor:
Mouliade, Sarah
Publikováno v:
Médecine humaine et pathologie. 2021
Pregnancy in women with motor disabilities is increasingly recognized by society and by the government. In December 2019, the government announced the opening of a resource centre on "Intimate life, sexuality and support for parenthood" for these wom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2b718965608266666ab0db7d3618a501
https://dumas.ccsd.cnrs.fr/dumas-03451379/document
https://dumas.ccsd.cnrs.fr/dumas-03451379/document
Autor:
Kundul, Ferdi
Publikováno v:
Médecine humaine et pathologie. 2020
Spinal muscular atrophy (SMA) is a genetic neuromuscular disease of varying severity, resulting from homozygous inactivation of the SMN1 gene. The detection of heterozygotes is based on the determination of the copy number of the SMN1 gene by quantit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2592::3c1e422a8db3ac894b99659d424c5bca
https://dumas.ccsd.cnrs.fr/dumas-02949211/document
https://dumas.ccsd.cnrs.fr/dumas-02949211/document
Autor:
Querin, Giorgia
Publikováno v:
Neuroscience. Sorbonne Université, 2019. English. ⟨NNT : 2019SORUS329⟩
Motor neuron diseases (MNDs) are characterized by dysfunction and loss of ventral horn MNs in the spinal grey matter (GM). Nevertheless, different MNDs such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) present with specifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2592::54136f585b6a4d99ed8cbd44bbbfae3a
https://tel.archives-ouvertes.fr/tel-03022201/document
https://tel.archives-ouvertes.fr/tel-03022201/document
Autor:
Querin, Giorgia
Publikováno v:
Neuroscience. Sorbonne Université, 2019. English. ⟨NNT : 2019SORUS329⟩
Motor neuron diseases (MNDs) are characterized by dysfunction and loss of ventral horn MNs in the spinal grey matter (GM). Nevertheless, different MNDs such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) present with specifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::54136f585b6a4d99ed8cbd44bbbfae3a
https://tel.archives-ouvertes.fr/tel-03022201/document
https://tel.archives-ouvertes.fr/tel-03022201/document
Autor:
Mecca, Jordan
Publikováno v:
Biologie cellulaire. Sorbonne Université, 2019. Français. ⟨NNT : 2019SORUS261⟩
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by motor neurons (MN) degeneration, muscle atrophy and paralysis leading to premature death in the most severe forms. SMA is due to a reduction of the ubiquitous protein called S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2592::45756029b6d5ba79f147b92da04ea1d7
https://tel.archives-ouvertes.fr/tel-02968362/document
https://tel.archives-ouvertes.fr/tel-02968362/document
Autor:
Mecca, Jordan
Publikováno v:
Biologie cellulaire. Sorbonne Université, 2019. Français. ⟨NNT : 2019SORUS261⟩
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by motor neurons (MN) degeneration, muscle atrophy and paralysis leading to premature death in the most severe forms. SMA is due to a reduction of the ubiquitous protein called S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______212::45756029b6d5ba79f147b92da04ea1d7
https://tel.archives-ouvertes.fr/tel-02968362/document
https://tel.archives-ouvertes.fr/tel-02968362/document
Akademický článek
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Autor:
Houdebine, Léo
Publikováno v:
Neurosciences [q-bio.NC]. Université Sorbonne Paris Cité, 2017. Français. ⟨NNT : 2017USPCB154⟩
Spinal Muscular Atrophy (SMA) is an autosomal recessive rare disease occurring in childhood for which no therapy is efficient. SMA is characterized by specific degeneration of motor neurons causing critical muscle weaknesses which, when they affect t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a24e155c97a618f5dcc75be59b8d3928
https://tel.archives-ouvertes.fr/tel-03284274/document
https://tel.archives-ouvertes.fr/tel-03284274/document
Autor:
Houdebine, Léo
Publikováno v:
Neurosciences [q-bio.NC]. Université Sorbonne Paris Cité, 2017. Français. ⟨NNT : 2017USPCB154⟩
Spinal Muscular Atrophy (SMA) is an autosomal recessive rare disease occurring in childhood for which no therapy is efficient. SMA is characterized by specific degeneration of motor neurons causing critical muscle weaknesses which, when they affect t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1398::a24e155c97a618f5dcc75be59b8d3928
https://theses.hal.science/tel-03284274
https://theses.hal.science/tel-03284274