Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1432-0533

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions ; volume:142 ; number:2 ; day:11 ; month:5 ; year:2021 ; pages:375-393 ; date:8.2021
Acta neuropathologica ; 142, Heft 2 (11.5.2021), 375-393, 8.2021

Creator: Johari, Mridul
Sarparanta, Jaakko
Vihola, Anna
Jonson, Per Harald
Savarese, Marco
Jokela, Manu
Torella, Annalaura
Piluso, Giulio
Said, Edith
Vella, Norbert
Cauchi, Marija
Magot, Armelle
Magri, Francesca
Mauri, Eleonora
Kornblum, Cornelia
Reimann, Jens
Stojkovic, Tanya
Romero, Norma B.
Luque, Helena
Huovinen, Sanna
Lahermo, Päivi
Donner, Kati
Comi, Giacomo Pietro
Nigro, Vincenzo
Hackman, Peter
Udd, Bjarne

Contributor: SpringerLink (Online service)

DOI: 10.1007/s00401-021-02319-x

URN: urn:nbn:de:101:1-2021101614040160124400

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:30 AM CEST

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Associated

Johari, Mridul
Sarparanta, Jaakko
Vihola, Anna
Jonson, Per Harald
Savarese, Marco
Jokela, Manu
Torella, Annalaura
Piluso, Giulio
Said, Edith
Vella, Norbert
Cauchi, Marija
Magot, Armelle
Magri, Francesca
Mauri, Eleonora
Kornblum, Cornelia
Reimann, Jens
Stojkovic, Tanya
Romero, Norma B.
Luque, Helena
Huovinen, Sanna
Lahermo, Päivi
Donner, Kati
Comi, Giacomo Pietro
Nigro, Vincenzo
Hackman, Peter
Udd, Bjarne
SpringerLink (Online service)

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X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition

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Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

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Other Objects (12)

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

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The X-linked Retinitis Pigmentosa protein RP2 facilitates traffic of cilia target proteins

Altered sodium channel-protein associations in critical illness myopathy

Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy

Characterisation of DNA-protein crosslink repair with the Purification of x-linked Proteins technique

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase

Childhood-onset myopathy with preserved ambulation caused by a recurrent ADSSL1 missense variant

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

Protein destabilization underlies pathogenic missense mutations in ARID1B

The X-linked Retinitis Pigmentosa protein RP2 facilitates traffic of cilia target proteins

Altered sodium channel-protein associations in critical illness myopathy

Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy

Characterisation of DNA-protein crosslink repair with the Purification of x-linked Proteins technique

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase

Childhood-onset myopathy with preserved ambulation caused by a recurrent ADSSL1 missense variant

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

Protein destabilization underlies pathogenic missense mutations in ARID1B

The X-linked Retinitis Pigmentosa protein RP2 facilitates traffic of cilia target proteins

Altered sodium channel-protein associations in critical illness myopathy

Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy

Characterisation of DNA-protein crosslink repair with the Purification of x-linked Proteins technique

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase

Childhood-onset myopathy with preserved ambulation caused by a recurrent ADSSL1 missense variant

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Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition

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