Pages that link to "Q34281920"

The following pages link to Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. (Q34281920):

Displaying 36 items.

• "Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline (Q21146677) (← links)
• A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease (Q21261479) (← links)
• Membrane-shaping disorders: a common pathway in axon degeneration (Q26852808) (← links)
• Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy (Q27312543) (← links)
• Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology (Q28081453) (← links)
• Distal hereditary motor neuropathy type V (Q28134983) (← links)
• Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa (Q29147466) (← links)
• Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure (Q30538198) (← links)
• A spastic paraplegia mouse model reveals REEP1-dependent ER shaping. (Q30547075) (← links)
• Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy (Q33620795) (← links)
• A conserved amphipathic helix is required for membrane tubule formation by Yop1p (Q35128745) (← links)
• The Genetics of Spinal Muscular Atrophy: Progress and Challenges (Q35501975) (← links)
• Hunting human disease genes: lessons from the past, challenges for the future. (Q36844560) (← links)
• Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy (Q36909269) (← links)
• Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype (Q36927867) (← links)
• Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease (Q37057055) (← links)
• Next-generation sequencing in understanding complex neurological disease (Q37331388) (← links)
• SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome (Q37345462) (← links)
• Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP). (Q37366957) (← links)
• REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues. (Q37573714) (← links)
• REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking. (Q38802085) (← links)
• Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology (Q39029111) (← links)
• ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia (Q39293392) (← links)
• A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings (Q39711023) (← links)
• Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts (Q40707464) (← links)
• Modeling of axonal endoplasmic reticulum network by spastic paraplegia proteins. (Q41563012) (← links)
• Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges (Q44303948) (← links)
• A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif (Q47417595) (← links)
• Application of whole exome sequencing in undiagnosed inherited polyneuropathies. (Q51104336) (← links)
• Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation. (Q51241402) (← links)
• Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia. (Q53074931) (← links)
• A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V. (Q64963843) (← links)
• [Motor neuron diseases : Clinical and genetic differential diagnostics] (Q88692303) (← links)
• Axonal Endoplasmic Reticulum Dynamics and Its Roles in Neurodegeneration (Q89963647) (← links)
• An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models (Q92151953) (← links)
• Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families (Q97520852) (← links)