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26. Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy. Issue 12 (5th November 2022)

27. Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3. Issue 10 (5th May 2021)

28. Regorafenib in advanced high-grade glioma: a retrospective bicentric analysis. Issue 7 (23rd April 2019)

29. Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation. Issue 1 (1st August 2022)

30. SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. Issue 1 (15th September 2017)