ABN news
Pract Neurol. 2023 Nov 23;23(6):554. doi: 10.1136/pn-2023-004005.NO ABSTRACTPMID:37996109 | DOI:10.1136/pn-2023-004005 (Source: Practical Neurology)
Source: Practical Neurology - November 23, 2023 Category: Neurology Authors: Maya McCourt Lucy Kinton Source Type: research
Editors' commentary
Pract Neurol. 2023 Nov 23;23(6):461. doi: 10.1136/pn-2023-004008.NO ABSTRACTPMID:37996108 | DOI:10.1136/pn-2023-004008 (Source: Practical Neurology)
Source: Practical Neurology - November 23, 2023 Category: Neurology Authors: Geraint N Fuller Phil E M Smith Source Type: research
ABN news
Pract Neurol. 2023 Nov 23;23(6):554. doi: 10.1136/pn-2023-004005.NO ABSTRACTPMID:37996109 | DOI:10.1136/pn-2023-004005 (Source: Practical Neurology)
Source: Practical Neurology - November 23, 2023 Category: Neurology Authors: Maya McCourt Lucy Kinton Source Type: research
Editors' commentary
Pract Neurol. 2023 Nov 23;23(6):461. doi: 10.1136/pn-2023-004008.NO ABSTRACTPMID:37996108 | DOI:10.1136/pn-2023-004008 (Source: Practical Neurology)
Source: Practical Neurology - November 23, 2023 Category: Neurology Authors: Geraint N Fuller Phil E M Smith Source Type: research
ABN news
Pract Neurol. 2023 Nov 23;23(6):554. doi: 10.1136/pn-2023-004005.NO ABSTRACTPMID:37996109 | DOI:10.1136/pn-2023-004005 (Source: Practical Neurology)
Source: Practical Neurology - November 23, 2023 Category: Neurology Authors: Maya McCourt Lucy Kinton Source Type: research
Editors' commentary
Pract Neurol. 2023 Nov 23;23(6):461. doi: 10.1136/pn-2023-004008.NO ABSTRACTPMID:37996108 | DOI:10.1136/pn-2023-004008 (Source: Practical Neurology)
Source: Practical Neurology - November 23, 2023 Category: Neurology Authors: Geraint N Fuller Phil E M Smith Source Type: research
ABN news
Pract Neurol. 2023 Nov 23;23(6):554. doi: 10.1136/pn-2023-004005.NO ABSTRACTPMID:37996109 | DOI:10.1136/pn-2023-004005 (Source: Practical Neurology)
Source: Practical Neurology - November 23, 2023 Category: Neurology Authors: Maya McCourt Lucy Kinton Source Type: research
Editors' commentary
Pract Neurol. 2023 Nov 23;23(6):461. doi: 10.1136/pn-2023-004008.NO ABSTRACTPMID:37996108 | DOI:10.1136/pn-2023-004008 (Source: Practical Neurology)
Source: Practical Neurology - November 23, 2023 Category: Neurology Authors: Geraint N Fuller Phil E M Smith Source Type: research
ABN news
Pract Neurol. 2023 Nov 23;23(6):554. doi: 10.1136/pn-2023-004005.NO ABSTRACTPMID:37996109 | DOI:10.1136/pn-2023-004005 (Source: Practical Neurology)
Source: Practical Neurology - November 23, 2023 Category: Neurology Authors: Maya McCourt Lucy Kinton Source Type: research
Editors' commentary
Pract Neurol. 2023 Nov 23;23(6):461. doi: 10.1136/pn-2023-004008.NO ABSTRACTPMID:37996108 | DOI:10.1136/pn-2023-004008 (Source: Practical Neurology)
Source: Practical Neurology - November 23, 2023 Category: Neurology Authors: Geraint N Fuller Phil E M Smith Source Type: research
ABN news
Pract Neurol. 2023 Nov 23;23(6):554. doi: 10.1136/pn-2023-004005.NO ABSTRACTPMID:37996109 | DOI:10.1136/pn-2023-004005 (Source: Practical Neurology)
Source: Practical Neurology - November 23, 2023 Category: Neurology Authors: Maya McCourt Lucy Kinton Source Type: research
Congenital myasthenic syndrome from a < em > MUSK < /em > gene mutation
We present the case of a woman in her 40s with gradually progressive symmetrical weakness and respiratory muscle involvement. Extensive investigation found no specific cause. After a novel neuromuscular gene panel became available, we identified a mutation in the MUSK gene (muscle-specific kinase), confirming a diagnosis of congenital myasthenic syndrome. This group of rare disorders are caused by mutations in genes encoding the neuromuscular junction.PMID:37985124 | DOI:10.1136/pn-2023-003945 (Source: Practical Neurology)
Source: Practical Neurology - November 20, 2023 Category: Neurology Authors: Antonia McLean Ian Wilson Source Type: research
Congenital myasthenic syndrome from a < em > MUSK < /em > gene mutation
We present the case of a woman in her 40s with gradually progressive symmetrical weakness and respiratory muscle involvement. Extensive investigation found no specific cause. After a novel neuromuscular gene panel became available, we identified a mutation in the MUSK gene (muscle-specific kinase), confirming a diagnosis of congenital myasthenic syndrome. This group of rare disorders are caused by mutations in genes encoding the neuromuscular junction.PMID:37985124 | DOI:10.1136/pn-2023-003945 (Source: Practical Neurology)
Source: Practical Neurology - November 20, 2023 Category: Neurology Authors: Antonia McLean Ian Wilson Source Type: research
Congenital myasthenic syndrome from a < em > MUSK < /em > gene mutation
We present the case of a woman in her 40s with gradually progressive symmetrical weakness and respiratory muscle involvement. Extensive investigation found no specific cause. After a novel neuromuscular gene panel became available, we identified a mutation in the MUSK gene (muscle-specific kinase), confirming a diagnosis of congenital myasthenic syndrome. This group of rare disorders are caused by mutations in genes encoding the neuromuscular junction.PMID:37985124 | DOI:10.1136/pn-2023-003945 (Source: Practical Neurology)
Source: Practical Neurology - November 20, 2023 Category: Neurology Authors: Antonia McLean Ian Wilson Source Type: research
Artificial intelligence (AI) for neurologists: do digital neurones dream of electric sheep?
This article was written by four humans, with generative AI helping with formatting and image generation.PMID:37977806 | DOI:10.1136/pn-2023-003757 (Source: Practical Neurology)
Source: Practical Neurology - November 17, 2023 Category: Neurology Authors: Joshua Au Yeung Yang Yang Wang Zeljko Kraljevic James T H Teo Source Type: research
