Kazamel M - Search Results

1

Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles.

Jiang N, Vazquez Do Campo R, Kazamel M. Jiang N, et al. Among authors: kazamel m. Front Neurol. 2023 Feb 6;14:1007051. doi: 10.3389/fneur.2023.1007051. eCollection 2023. Front Neurol. 2023. PMID: 36846110 Free PMC article.

2

Wnt antagonist FRZB is a muscle biomarker of denervation atrophy in amyotrophic lateral sclerosis.

Kwan T, Kazamel M, Thoenes K, Si Y, Jiang N, King PH. Kwan T, et al. Among authors: kazamel m. Sci Rep. 2020 Oct 7;10(1):16679. doi: 10.1038/s41598-020-73845-z. Sci Rep. 2020. PMID: 33028902 Free PMC article.

3

FGF23, a novel muscle biomarker detected in the early stages of ALS.

Si Y, Kazamel M, Benatar M, Wuu J, Kwon Y, Kwan T, Jiang N, Kentrup D, Faul C, Alesce L, King PH. Si Y, et al. Among authors: kazamel m. Sci Rep. 2021 Jun 8;11(1):12062. doi: 10.1038/s41598-021-91496-6. Sci Rep. 2021. PMID: 34103575 Free PMC article.

4

Pain in acute hepatic porphyrias: Updates on pathophysiology and management.

Kazamel M, Pischik E, Desnick RJ. Kazamel M, et al. Front Neurol. 2022 Nov 21;13:1004125. doi: 10.3389/fneur.2022.1004125. eCollection 2022. Front Neurol. 2022. PMID: 36479055 Free PMC article. Review.

5

Editorial: Diagnosis of neuromuscular disorders in the era of personalized genomic medicine.

Kazamel M, Ho CY. Kazamel M, et al. Front Neurol. 2023 May 24;14:1188037. doi: 10.3389/fneur.2023.1188037. eCollection 2023. Front Neurol. 2023. PMID: 37292125 Free PMC article. No abstract available.

6

'Minimal symptom expression' in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab.

Vissing J, Jacob S, Fujita KP, O'Brien F, Howard JF; REGAIN study group. Vissing J, et al. J Neurol. 2020 Jul;267(7):1991-2001. doi: 10.1007/s00415-020-09770-y. Epub 2020 Mar 18. J Neurol. 2020. PMID: 32189108 Free PMC article. Clinical Trial.

7

Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis.

Kazamel M, Lopez MA, Bebin M, Bowling K, Korf BR, Barsh GS, Cooper GM, Hurst ACE, Ubogu EE. Kazamel M, et al. Neurol Genet. 2020 Jun 25;6(4):e476. doi: 10.1212/NXG.0000000000000476. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32802946 Free PMC article. No abstract available.

8

Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management.

Kazamel M, Desnick RJ, Quigley JG. Kazamel M, et al. Curr Neurol Neurosci Rep. 2020 Oct 7;20(12):56. doi: 10.1007/s11910-020-01078-8. Curr Neurol Neurosci Rep. 2020. PMID: 33026560 Review.

9

Charcot Marie Tooth disease (CMT): historical perspectives and evolution.

Kazamel M, Boes CJ. Kazamel M, et al. J Neurol. 2015;262(4):801-5. doi: 10.1007/s00415-014-7490-9. Epub 2014 Sep 9. J Neurol. 2015. PMID: 25201224 Review.

10

Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification.

Schwartzlow C, Kazamel M. Schwartzlow C, et al. Among authors: kazamel m. Curr Neurol Neurosci Rep. 2019 Jun 20;19(8):52. doi: 10.1007/s11910-019-0974-3. Curr Neurol Neurosci Rep. 2019. PMID: 31222456 Review.

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