apnea has been researched along with Congenital Myasthenia in 10 studies
Apnea: A transient absence of spontaneous respiration.
| Excerpt | Relevance | Reference |
|---|---|---|
| " Congenital myasthenic syndrome with episodic apnea is a rare cause of recurrent apnea in infancy." | 7.75 | Congenital myasthenic syndrome with episodic apnea. ( Agus, MS; Burgess, SL; Burpee, TM; Darras, BT; Estrella, E; Kang, PB; Kunkel, LM; Mallory, LA; Nurko, S; Shaw, JG, 2009) |
| " Mutations in the choline acetyltransferase (CHAT) gene cause a presynaptic CMS associated with episodic apnea (CMS-EA)." | 7.73 | Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. ( Abicht, A; Barisic, N; Gazdik, M; Lah-Tomulic, K; Lochmüller, H; Müller, JS; Paucic-Kirincic, E; Pertl, A; Sertic, J; Zurak, N, 2005) |
| "The syndrome of congenital myasthenia with episodic apnea (CMS-EA) was previously found to be due to mutations in the choline acetyltransferase gene (CHAT)." | 7.72 | Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. ( Kraner, S; Laufenberg, I; Sieb, JP; Steinlein, OK; Strassburg, HM, 2003) |
| " Some congenital myasthenic syndromes can cause sudden infant death syndrome by apnea, but the frequency of this etiology is unknown." | 7.71 | Congenital myasthenic syndrome associated with episodic apnea and sudden infant death. ( Byring, RF; Engel, AG; Gustafsson, B; Hackman, P; Ohno, K; Pihko, H; Shen, XM; Tsujino, A; Udd, B, 2002) |
| " Here we report that mutations in CHAT cause a congenital myasthenic syndrome associated with frequently fatal episodes of apnea (CMS-EA)." | 7.71 | Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. ( Bajzer, Z; Beyring, R; Brengman, JM; Engel, AG; Harper, CM; Kirkham, FJ; Ohno, K; Robb, S; Tsujino, A; Udd, B, 2001) |
| " CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea." | 4.98 | Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review. ( Arican, P; Cavusoglu, D; Gencpinar, P; Olgac Dundar, N, 2018) |
| " Congenital myasthenic syndrome with episodic apnea is a rare cause of recurrent apnea in infancy." | 3.75 | Congenital myasthenic syndrome with episodic apnea. ( Agus, MS; Burgess, SL; Burpee, TM; Darras, BT; Estrella, E; Kang, PB; Kunkel, LM; Mallory, LA; Nurko, S; Shaw, JG, 2009) |
| " Mutations in the choline acetyltransferase (CHAT) gene cause a presynaptic CMS associated with episodic apnea (CMS-EA)." | 3.73 | Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. ( Abicht, A; Barisic, N; Gazdik, M; Lah-Tomulic, K; Lochmüller, H; Müller, JS; Paucic-Kirincic, E; Pertl, A; Sertic, J; Zurak, N, 2005) |
| " Multiple episodes of sudden apnea were reported for all patients." | 3.72 | Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. ( Abicht, A; Bufler, J; Huebner, A; Krampfl, K; Lochmüller, H; Mildner, G; Mortier, W; Petrova, S; Schara, U; Schmidt, C; Stucka, R; Voss, W, 2003) |
| "The syndrome of congenital myasthenia with episodic apnea (CMS-EA) was previously found to be due to mutations in the choline acetyltransferase gene (CHAT)." | 3.72 | Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. ( Kraner, S; Laufenberg, I; Sieb, JP; Steinlein, OK; Strassburg, HM, 2003) |
| " Some congenital myasthenic syndromes can cause sudden infant death syndrome by apnea, but the frequency of this etiology is unknown." | 3.71 | Congenital myasthenic syndrome associated with episodic apnea and sudden infant death. ( Byring, RF; Engel, AG; Gustafsson, B; Hackman, P; Ohno, K; Pihko, H; Shen, XM; Tsujino, A; Udd, B, 2002) |
| " Here we report that mutations in CHAT cause a congenital myasthenic syndrome associated with frequently fatal episodes of apnea (CMS-EA)." | 3.71 | Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. ( Bajzer, Z; Beyring, R; Brengman, JM; Engel, AG; Harper, CM; Kirkham, FJ; Ohno, K; Robb, S; Tsujino, A; Udd, B, 2001) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 8 (80.00) | 29.6817 |
| 2010's | 2 (20.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Liu, ZM | 1 |
| Fang, F | 1 |
| Ding, CH | 1 |
| Zhang, WH | 1 |
| Deng, J | 1 |
| Chen, CH | 1 |
| Wang, X | 1 |
| Liu, J | 1 |
| Li, Z | 1 |
| Jia, XL | 1 |
| Zeng, JS | 1 |
| Qian, SY | 1 |
| Arican, P | 1 |
| Gencpinar, P | 1 |
| Cavusoglu, D | 1 |
| Olgac Dundar, N | 1 |
| Mallory, LA | 1 |
| Shaw, JG | 1 |
| Burgess, SL | 1 |
| Estrella, E | 1 |
| Nurko, S | 1 |
| Burpee, TM | 1 |
| Agus, MS | 1 |
| Darras, BT | 1 |
| Kunkel, LM | 1 |
| Kang, PB | 1 |
| Byring, RF | 2 |
| Pihko, H | 2 |
| Tsujino, A | 2 |
| Shen, XM | 2 |
| Gustafsson, B | 2 |
| Hackman, P | 2 |
| Ohno, K | 4 |
| Engel, AG | 3 |
| Udd, B | 3 |
| Engel, A | 1 |
| Schmidt, C | 1 |
| Abicht, A | 2 |
| Krampfl, K | 1 |
| Voss, W | 1 |
| Stucka, R | 1 |
| Mildner, G | 1 |
| Petrova, S | 1 |
| Schara, U | 1 |
| Mortier, W | 1 |
| Bufler, J | 1 |
| Huebner, A | 1 |
| Lochmüller, H | 2 |
| Kraner, S | 1 |
| Laufenberg, I | 1 |
| Strassburg, HM | 1 |
| Sieb, JP | 1 |
| Steinlein, OK | 1 |
| Sine, SM | 1 |
| Barisic, N | 1 |
| Müller, JS | 1 |
| Paucic-Kirincic, E | 1 |
| Gazdik, M | 1 |
| Lah-Tomulic, K | 1 |
| Pertl, A | 1 |
| Sertic, J | 1 |
| Zurak, N | 1 |
| Brengman, JM | 1 |
| Harper, CM | 1 |
| Bajzer, Z | 1 |
| Beyring, R | 1 |
| Robb, S | 1 |
| Kirkham, FJ | 1 |
2 reviews available for apnea and Congenital Myasthenia
| Article | Year |
|---|---|
Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review.
Topics: Apnea; Choline O-Acetyltransferase; Diagnosis, Differential; Female; Humans; Infant; Mutation; Myast | 2018 |
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.
Topics: Animals; Apnea; Choline O-Acetyltransferase; Humans; Kinetics; Muscle Proteins; Mutation; Myasthenic | 2003 |
8 other studies available for apnea and Congenital Myasthenia
| Article | Year |
|---|---|
[Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases].
Topics: Apnea; Child; Choline O-Acetyltransferase; Exons; Humans; Mutation; Myasthenic Syndromes, Congenital | 2018 |
Congenital myasthenic syndrome with episodic apnea.
Topics: Amino Acid Sequence; Apnea; Blepharoptosis; Choline O-Acetyltransferase; Cholinesterase Inhibitors; | 2009 |
Congenital myasthenic syndrome associated with episodic apnea and sudden infant death.
Topics: Acetylcholine; Apnea; Child; Choline O-Acetyltransferase; Consanguinity; Electromyography; Electroph | 2002 |
[Respiratory arrests caused by congenital myasthenia gravis syndrome].
Topics: Apnea; Child; Choline O-Acetyltransferase; Cholinesterase Inhibitors; Female; Humans; Mutation; Myas | 2002 |
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.
Topics: Adolescent; Apnea; Child; Choline O-Acetyltransferase; DNA Mutational Analysis; Female; Genetic Link | 2003 |
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.
Topics: Adult; Apnea; Child; Choline O-Acetyltransferase; Consanguinity; Family Health; Female; Homozygote; | 2003 |
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants.
Topics: Apnea; Choline O-Acetyltransferase; Croatia; Developmental Disabilities; Female; Humans; Hypoxia, Br | 2005 |
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
Topics: Adult; Amino Acid Sequence; Animals; Apnea; Bungarotoxins; Child; Child, Preschool; Chlorocebus aeth | 2001 |