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Fred van Ruissen

University of Amsterdam

23

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675

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Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions.

2021 Translational Psychiatry
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Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

2018 Human Molecular Genetics
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LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P

2017 Human Molecular Genetics
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Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations

2017 Journal of The Peripheral Nervous System
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Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B.

2016 Neuromuscular Disorders
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RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

2016
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Severe Dejerine‐Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

2012 Journal of The Peripheral Nervous System
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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

2011 Brain
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TSEN54 mutations cause pontocerebellar hypoplasia type 5

2011 European Journal of Human Genetics
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X-linked Charcot-Marie-Tooth disease with novel c.47A>T GJB1 gene mutation.

2010 Journal of The Peripheral Nervous System
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