An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extrac...

Szczegółowa specyfikacja

Opis bibliograficzny
Główni autorzy:	Pagnamenta, A, Kaiyrzhanov, R, Zou, Y, Taylor, J, Ferla, M, Nemeth, A, Et al.
Format:	Journal article
Język:	English
Wydane:	Oxford University Press 2021

Podobne zapisy

Autosomal recessive VWA1 -related disorder: comprehensive analysis of phenotypic variability and genetic mutations
od: Nagy, S, i wsp.
Wydane: (2024)

Chapter 7 Spinal muscular atrophies and hereditary motor neuropathies.
od: Talbot, K, i wsp.
Wydane: (2007)

HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes
od: Kwok, A, i wsp.
Wydane: (2011)

HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes.
od: Kwok, A, i wsp.
Wydane: (2011)

Childhood-onset Leber hereditary optic neuropathy
od: Majander, A, i wsp.
Wydane: (2017)

Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised alpha-fetoprotein.
od: Izatt, L, i wsp.
Wydane: (2004)

Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy.
od: Palace, J
Wydane: (2009)

Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies
od: Nagy, S, i wsp.
Wydane: (2024)

Increased protein S-glutathionylation in Leber’s hereditary optic neuropathy (LHON)
od: Zhou, Lei, i wsp.
Wydane: (2021)

MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis.
od: Matthews, L, i wsp.
Wydane: (2014)

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
od: Evgrafov, O, i wsp.
Wydane: (2004)

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
od: Fiorentino, A, i wsp.
Wydane: (2018)

Disturbances in affective touch in hereditary sensory and autonomic neuropathy type III.
od: Macefield, V, i wsp.
Wydane: (2014)

White matter changes in Leber's hereditary optic neuropathy: MRI findings.
od: Küker, W, i wsp.
Wydane: (2007)

Real-world clinical experience with idebenone in the treatment of Leber hereditary optic neuropathy
od: Catarino, CB, i wsp.
Wydane: (2020)

Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy
od: Calvo, M, i wsp.
Wydane: (2017)

Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy
od: von Bischhoffshausen, S, i wsp.
Wydane: (2017)

Reconstructing the ancestral germ line methylation state of young repeats.
od: Feuerbach, L, i wsp.
Wydane: (2011)

Structure of the human TRiC/CCT Subunit 5 associated with hereditary sensory neuropathy
od: Pereira, Jose H., i wsp.
Wydane: (2018)

An elusive cause for a progressive neuropathy.
od: Aurangzeb, S, i wsp.
Wydane: (2014)

Tibetan vwa ‘fox’ and the sound change Tibeto-Burman *wa > Tibetan o
od: Hill, Nathan W.
Wydane: (2024)

Islamic law in the LCC : local expansion of subclass BP
od: Suja', Balqis
Wydane: (2000)

Late onset hereditary sensory and autonomic neuropathy with cognitive impairment associated with Y163X prion mutation.
od: Themistocleous, A, i wsp.
Wydane: (2014)

Ancestral houses /
od: 230942 Bence-Jones, Mark
Wydane: (1984)

An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.
od: Jaeger, E, i wsp.
Wydane: (2003)

Nosocomial treatment-induced neuropathy of diabetes : an important cause of painful and autonomic neuropathy in hospitalized diabetes mellitus patients
od: Koh, Jasmine Shimin, i wsp.
Wydane: (2021)

Genetic variation at the mitochondrial DNA 9-bp repeat locus in the Sakha of Siberia.
od: Tarskaia, L, i wsp.
Wydane: (2006)

Tethys : the ancestral mediterranean/
od: Sonnenfeld, Peter
Wydane: (1981)

What repeat expansion disorders can teach us about the Central Dogma
od: Wang, ET, i wsp.
Wydane: (2023)

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
od: Irobi, J, i wsp.
Wydane: (2004)

Allele frequencies of STRs (F13A01, FESFPS and vWA) in random Chinese population of Malaysia
od: Maniam, Saravanakumar A/L

Allele frequencies of F13A01, FESFPS and vWA STRs in random Tamil population of Malaysia
od: Velayutham, Sumathy d/o
Wydane: (2004)

An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions
od: Clark, A, i wsp.
Wydane: (2021)

Mechanisms of transcriptional dysregulation in repeat expansion disorders.
od: Groh, M, i wsp.
Wydane: (2014)

Autosomal dominant cerebellar ataxia type III: No evidence for a large pathological CAG repeat expansion in the SCA 11 gene.
od: Worth, P, i wsp.
Wydane: (1999)

The ancestral image in the present tense
od: Morton, C
Wydane: (2015)

Causal discovery with ancestral graphs
od: Hu, Z
Wydane: (2023)

Open-hereditary, closed-hereditary and productive properties on some compact spaces
od: , HASAN, Talib Hashim, i wsp.
Wydane: (1997)

Hereditary and Autoimmune Myasthenias
od: Beeson, D
Wydane: (2013)

CAG repeat expansions induce cytoplasmic RNA aggregation
od: Das, Michael R.
Wydane: (2024)