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apnea and Amyoplasia Congenita

apnea has been researched along with Amyoplasia Congenita in 1 studies

Apnea: A transient absence of spontaneous respiration.

Research Excerpts

ExcerptRelevanceReference
" We identified 11 recessive mutations in SLC5A7 that were associated with a spectrum of severe muscle weakness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea and a favorable prognosis when well managed at the clinical level."7.83Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. ( Astrea, G; Azuma, Y; Bauché, S; Beaufrere, AM; Boland, A; Bonne, G; Bouzidi, N; Brochier, G; Buon, C; Burloiu, CM; Butoianu, N; Bœuf, B; Deleuze, JF; Desguerre, I; Duffourd, Y; El Chehadeh-Djebbar, S; Eymard, B; Faivre, L; Fiorillo, C; Fontaine, B; Lacène, E; Laffargue, F; Laporte, J; Lechner, D; Lochmuller, H; Mayer, M; McMacken, G; Mongini, T; Nelson, I; Nicole, S; Nougues, MC; O'Regan, S; Pebrel-Richard, C; Remerand, G; Ricci, F; Romero, N; Sandu, C; Servais, L; Sternberg, D; Strochlic, L; Thevenon, J; Topf, A, 2016)
" We identified 11 recessive mutations in SLC5A7 that were associated with a spectrum of severe muscle weakness ranging from a lethal antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea and a favorable prognosis when well managed at the clinical level."3.83Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. ( Astrea, G; Azuma, Y; Bauché, S; Beaufrere, AM; Boland, A; Bonne, G; Bouzidi, N; Brochier, G; Buon, C; Burloiu, CM; Butoianu, N; Bœuf, B; Deleuze, JF; Desguerre, I; Duffourd, Y; El Chehadeh-Djebbar, S; Eymard, B; Faivre, L; Fiorillo, C; Fontaine, B; Lacène, E; Laffargue, F; Laporte, J; Lechner, D; Lochmuller, H; Mayer, M; McMacken, G; Mongini, T; Nelson, I; Nicole, S; Nougues, MC; O'Regan, S; Pebrel-Richard, C; Remerand, G; Ricci, F; Romero, N; Sandu, C; Servais, L; Sternberg, D; Strochlic, L; Thevenon, J; Topf, A, 2016)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bauché, S1
O'Regan, S1
Azuma, Y1
Laffargue, F1
McMacken, G1
Sternberg, D1
Brochier, G1
Buon, C1
Bouzidi, N1
Topf, A1
Lacène, E1
Remerand, G1
Beaufrere, AM1
Pebrel-Richard, C1
Thevenon, J1
El Chehadeh-Djebbar, S1
Faivre, L1
Duffourd, Y1
Ricci, F1
Mongini, T1
Fiorillo, C1
Astrea, G1
Burloiu, CM1
Butoianu, N1
Sandu, C1
Servais, L1
Bonne, G1
Nelson, I1
Desguerre, I1
Nougues, MC1
Bœuf, B1
Romero, N1
Laporte, J1
Boland, A1
Lechner, D1
Deleuze, JF1
Fontaine, B1
Strochlic, L1
Lochmuller, H1
Eymard, B1
Mayer, M1
Nicole, S1

Other Studies

1 other study available for apnea and Amyoplasia Congenita

ArticleYear
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
    American journal of human genetics, 2016, 09-01, Volume: 99, Issue:3

    Topics: Adolescent; Apnea; Arthrogryposis; Butyrylcholinesterase; Child; Child, Preschool; Cholinergic Neuro

2016