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Novel brain white matter disorders and their genetic causes
Kevelam, S.H.G.
2016
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Kevelam, S. H. G. (2016). Novel brain white matter disorders and their genetic causes.
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CoNteNts
Chapter 1 General introduction 9
Part I expansion of the phenotypic spectrum of a known disorder 29 Chapter 2 Altered PLP1 splicing causes hypomyelination of early 31
myelinating structures
Chapter 3 Exome sequencing reveals mutated SLC19A3 in patients 63 with an early-infantile, lethal encephalopathy
Chapter 3.2 Reply: Infantile Leigh-like syndrome caused by 93
SLC19A3 mutations is a treatable disease
Chapter 4 LAMA2 mutations in adult-onset muscular dystrophy with 97 leukoencephalopathy
Chapter 5 Absent thalami caused by a homozygous 103
EARS2 mutation: expanding disease spectrum of LTBL
Part II Novel disease entity associated with a known gene 113 Chapter 6 Novel (ovario)leukodystrophy related to AARS2 mutations 115 Chapter 7 Acute intermittent porphyria-related leukoencephalopathy 145 Chapter 8 Cathepsin A-related arteriopathy with strokes 161
Part III Novel disorder associated with a gene previously 195 not linked to a human disorder or clear phenotype
Chapter 9 NUBPL mutations in patients with complex I deficiency 197 and a distinct MRI pattern
Chapter 10 Recessive ITPA mutations cause an early-infantile encephalopathy 223 Part IV Update on leukodystrophies 247 Chapter 11 Leukodystrophies: origin, evolution and two revolutions 249 Chapter 12 Summary, discussion and future perspectives 265 Chapter 13 Nederlandse samenvatting 291
Dankwoord 301
List of publications 305
