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Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants

Molecular Genetics & Genomic Medicine
2024-08 | Journal article
Contributors: Sigurd Dobloug; Ulrika Kjellström; Glenn Anderson; Emily Gardner; Sara E. Mole; Jayesh Sheth; Andreas Puschmann
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Co-occurrence of CLCN2-related leukoencephalopathy and SPG56

Clinical Parkinsonism & Related Disorders
2023 | Journal article
Contributors: Wejdan Almasoudi; Christer Nilsson; Ulrika Kjellström; Kevin Sandeman; Andreas Puschmann
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