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Genetic neuromuscular disease

MedGen UID:
1826091
Concept ID:
C5680567
Disease or Syndrome

Professional guidelines

PubMed

Brakemeier S, Stolte B, Kleinschnitz C, Hagenacker T
Curr Pharm Des 2022;28(11):892-898. doi: 10.2174/1381612828666220329115433. PMID: 35352647
Chu ML, Moran E
Neurotherapeutics 2018 Oct;15(4):849-862. doi: 10.1007/s13311-018-0648-x. PMID: 30019308Free PMC Article
Reinig AM, Mirzaei S, Berlau DJ
Pharmacotherapy 2017 Apr;37(4):492-499. Epub 2017 Mar 10 doi: 10.1002/phar.1909. PMID: 28152217

Recent clinical studies

Etiology

Vidovic M, Freigang M, Aust E, Linse K, Petzold D, Günther R
BMC Neurol 2023 Jun 6;23(1):216. doi: 10.1186/s12883-023-03261-z. PMID: 37280513Free PMC Article
Amzali S, Wilson VD, Bommart S, Picot MC, Galas S, Mercier J, Poucheret P, Cristol JP, Arbogast S, Laoudj-Chenivesse D
Nutrients 2023 Mar 30;15(7) doi: 10.3390/nu15071673. PMID: 37049513Free PMC Article
Heier CR, McCormack NM, Tully CB, Novak JS, Newell-Stamper BL, Russell AJ, Fiorillo AA
J Cachexia Sarcopenia Muscle 2023 Apr;14(2):940-954. Epub 2023 Jan 11 doi: 10.1002/jcsm.13171. PMID: 36628607Free PMC Article
Fox D, To TM, Seetasith A, Patel AM, Iannaccone ST
Adv Ther 2023 Mar;40(3):903-919. Epub 2022 Dec 19 doi: 10.1007/s12325-022-02376-y. PMID: 36534265Free PMC Article
Chu ML, Moran E
Neurotherapeutics 2018 Oct;15(4):849-862. doi: 10.1007/s13311-018-0648-x. PMID: 30019308Free PMC Article

Diagnosis

Mashangva F, Singh S, Oswalia J, Arya R
J Biosci 2024;49 PMID: 38383974
Famili DT, Fernandez-Garcia MA, Vanegas M, Goldberg MF, Voermans N, Quinlivan R, Jungbluth H
Neuromuscul Disord 2023 Nov;33(11):866-872. Epub 2023 Sep 27 doi: 10.1016/j.nmd.2023.09.007. PMID: 37919205
Satoh M, Ceribelli A, Chan EK
Clin Rev Allergy Immunol 2012 Feb;42(1):16-25. doi: 10.1007/s12016-011-8286-7. PMID: 22083460
Finsterer J
Pediatr Cardiol 2009 Jul;30(5):659-81. Epub 2009 Jan 29 doi: 10.1007/s00246-008-9359-0. PMID: 19184181
Reilly MM, Hanna MG
J Neurol Neurosurg Psychiatry 2002 Dec;73 Suppl 2(Suppl 2):II12-21. doi: 10.1136/jnnp.73.suppl_2.ii12. PMID: 12536154Free PMC Article

Therapy

Kokaliaris C, Evans R, Hawkins N, Mahajan A, Scott DA, Sutherland CS, Nam J, Sajeev G
Adv Ther 2024 Jun;41(6):2414-2434. Epub 2024 May 5 doi: 10.1007/s12325-024-02845-6. PMID: 38705943Free PMC Article
Mashangva F, Singh S, Oswalia J, Arya R
J Biosci 2024;49 PMID: 38383974
Brakemeier S, Stolte B, Kleinschnitz C, Hagenacker T
Curr Pharm Des 2022;28(11):892-898. doi: 10.2174/1381612828666220329115433. PMID: 35352647
Chu ML, Moran E
Neurotherapeutics 2018 Oct;15(4):849-862. doi: 10.1007/s13311-018-0648-x. PMID: 30019308Free PMC Article
Reinig AM, Mirzaei S, Berlau DJ
Pharmacotherapy 2017 Apr;37(4):492-499. Epub 2017 Mar 10 doi: 10.1002/phar.1909. PMID: 28152217

Prognosis

Sabuncu Gürses G, Erdem SS, Saçan MT
SAR QSAR Environ Res 2023 Mar;34(3):247-266. doi: 10.1080/1062936X.2023.2200975. PMID: 37125536
Brakemeier S, Stolte B, Kleinschnitz C, Hagenacker T
Curr Pharm Des 2022;28(11):892-898. doi: 10.2174/1381612828666220329115433. PMID: 35352647
Sampedro Castañeda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marques Caldas V, Conti Reed U, da Silva AMS, O'Callaghan B, Phadke R, Bugiardini E, Sud R, McCall S, Hanna MG, Poulsen H, Männikkö R, Matthews E
Brain 2018 Dec 1;141(12):3308-3318. doi: 10.1093/brain/awy283. PMID: 30423015Free PMC Article

Clinical prediction guides

Kokaliaris C, Evans R, Hawkins N, Mahajan A, Scott DA, Sutherland CS, Nam J, Sajeev G
Adv Ther 2024 Jun;41(6):2414-2434. Epub 2024 May 5 doi: 10.1007/s12325-024-02845-6. PMID: 38705943Free PMC Article
Mashangva F, Singh S, Oswalia J, Arya R
J Biosci 2024;49 PMID: 38383974
Ricci G, Torri F, Govoni A, Chiappini R, Manca L, Vadi G, Roccella S, Magri F, Meneri M, Fassini F, Vacchiano V, Tomassini S, Gironella N, Coccia M, Comi G, Liguori R, Siciliano G
Acta Myol 2023;42(2-3):65-70. Epub 2023 Sep 30 doi: 10.36185/2532-1900-330. PMID: 38090548Free PMC Article
Vidovic M, Freigang M, Aust E, Linse K, Petzold D, Günther R
BMC Neurol 2023 Jun 6;23(1):216. doi: 10.1186/s12883-023-03261-z. PMID: 37280513Free PMC Article
Amzali S, Wilson VD, Bommart S, Picot MC, Galas S, Mercier J, Poucheret P, Cristol JP, Arbogast S, Laoudj-Chenivesse D
Nutrients 2023 Mar 30;15(7) doi: 10.3390/nu15071673. PMID: 37049513Free PMC Article

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    Clinical resources

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