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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29.
Acta Neuropathol. 2023.
PMID: 37119330
Free PMC article.
Outcome Measures for COL6 and LAMA2-Related Dystrophies.
Schwaede AN, Kuntz NL.
Schwaede AN, et al.
Pediatr Neurol Briefs. 2020 Dec 4;34:15. doi: 10.15844/pedneurbriefs-34-15.
Pediatr Neurol Briefs. 2020.
PMID: 33304089
Free PMC article.
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Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.
Munson HE, De Simone L, Schwaede A, Bhatia A, Mithal DS, Young N, Kuntz N, Rao VK.
Munson HE, et al. Among authors: schwaede a.
BMC Med Genomics. 2023 Nov 6;16(1):278. doi: 10.1186/s12920-023-01599-4.
BMC Med Genomics. 2023.
PMID: 37932750
Free PMC article.
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Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen.
Krosschell KJ, Brown L, Hoffman K, Zumpf KB, Munson H, Bidwell J, Schulte DP, Schwaede AN, Buehner AN, DiDonato CJ, Kuntz NL, Rao VK.
Krosschell KJ, et al. Among authors: schwaede an.
J Neuromuscul Dis. 2023;10(3):337-348. doi: 10.3233/JND-221519.
J Neuromuscul Dis. 2023.
PMID: 36872785
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Utility of Repetitive Nerve Stimulation in Myopathies.
Schwaede A, Buehner AN, Rao VK.
Schwaede A, et al.
Pediatr Neurol Briefs. 2020 Feb 25;34:4. doi: 10.15844/pedneurbriefs-34-4.
Pediatr Neurol Briefs. 2020.
PMID: 32174747
Free PMC article.
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A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.
Tranel ES, McGowan B, Drackley A, Epstein LG, Rao VK, Kuntz NL, Schwaede AN.
Tranel ES, et al. Among authors: schwaede an.
Mol Genet Metab Rep. 2024 Jan 15;38:101051. doi: 10.1016/j.ymgmr.2024.101051. eCollection 2024 Mar.
Mol Genet Metab Rep. 2024.
PMID: 38469093
Free PMC article.
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Use of the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) in Spinal Muscular Atrophy.
Brown L, Hoffman K, Corbo-Galli C, Dong S, Zumpf K, Weigel C, Blomgren C, Munson H, Bidwell J, Rao V, Kuntz NL, Schwaede A, Krosschell KJ.
Brown L, et al. Among authors: schwaede a.
J Clin Med. 2024 Feb 6;13(4):921. doi: 10.3390/jcm13040921.
J Clin Med. 2024.
PMID: 38398235
Free PMC article.
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