Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia

Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion

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Base editing-mediated splicing correction therapy for spinal muscular atrophy

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Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy

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Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1

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Predicting Splicing from Primary Sequence with Deep Learning

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Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia

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Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

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Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia

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P5CS expression study in a new family with ALDH18A1 ‐associated hereditary spastic paraplegia SPG9

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Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia

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Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia

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A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

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OUP accepted manuscript

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Splicing mutations in human genetic disorders: examples, detection, and confirmation

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Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment

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Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

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Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

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Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

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Genetic and phenotypic characterization of complex hereditary spastic paraplegia

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Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

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ALDH18A1gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

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Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

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Genetic and epigenetic fine mapping of causal autoimmune disease variants

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Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Pyrroline-5-carboxylate synthase and proline biosynthesis: From osmotolerance to rare metabolic disease

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RNA and Disease

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