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Notable This Week

Selected by Stefan M. Pulst, MD, Dr med, Editor

ARTICLE | Mitochondrial Disorders

Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study

ARTICLE | Peripheral Neuropathy

Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland

ARTICLE |Metabolic Disease

Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices

ARTICLE | Cerebrovascular Disease

Genetic Predisposition to Mosaic Chromosomal Loss Is Associated With Functional Outcome After Ischemic Stroke

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Latest Articles

Article
Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism
Haitian Nan, Yeon-Jeong Kim, Mai Tsuchiya, et al.

January 18, 2022
Article
Clinical Deep Phenotyping of ABCA7 Mutation Carriers
Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, et al.

January 13, 2022
Correction
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
January 13, 2022
Article
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis
Melissa Nel, Amokelani C. Mahungu, Nomakhosazana Monnakgotla, et al.

January 12, 2022
Clinical/Scientific Note
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis
Yukako Nishimori, Aritoshi Iida, Masashi Ogasawara, et al.

December 17, 2021
Article
Multigene Panel Testing in a Large Cohort of Adults With EpilepsyDiagnostic Yield and Clinically Actionable Genetic Findings
Dianalee McKnight, Sara L. Bristow, Rebecca M. Truty, et al.

December 16, 2021

Advancing IDEAS Awareness
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Transitioning in Happy Valley
Gwen Zeigler, DO| January 18, 2022
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Advances in Neurologic Care*
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Demanding a Home Run: Resetting Expectations for ALS Clinical Trials
By Kellen Quigg, MD| December 20, 2021
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Advances in Global Neurology
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Looking for ‘COVID Silver Linings’ in 2022
Gretchen L. Birbeck, MD, MPH | December 27, 2021
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