Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

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Spastic paraplegia-linked phospholipase PAPLA1 is necessary for development, reproduction, and energy metabolism in Drosophila.CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

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Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

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Defining the genetic basis of ...... using whole genome sequencing

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Defining the genetic basis of ...... using whole genome sequencing

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Defining the genetic basis of ...... using whole genome sequencing

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Defining the genetic basis of ...... using whole genome sequencing

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André E Minoche

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Carolyn M Sue

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Clare Puttick

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G M Wali

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Gautam Wali

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Kishore R Kumar

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Mahesh Kamate

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Tony Roscioli

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Velimir Gayevskiy

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Recurrent and novel GLB1 mutations in India

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

Robust relationship inference in genome-wide association studies.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey.

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia.

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s10048-016-0495-z

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265-270

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scholarly article

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10.1007/S10048-016-0495-Z

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P478

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Marcel E. Dinger

Mark J. Cowley

Mark Pinese

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2016-09-28T00:00:00Z

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27679996

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5061846

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Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

about

P2860

P2860

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

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P1433

P1476

P2093

P2860

P2888

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P31

P356

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P577

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P2888

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P356

P433

P478

P50

P577

P698

P932