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A link between agrin signalling and Cav3.2 at the neuromuscular junction in spinal muscular atrophy

Scientific reports, 2022-11, Vol.12 (1), p.18960-18960, Article 18960

2022

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Collagen XXV promotes myoblast fusion during myogenic differentiation and muscle formation

Scientific reports, 2019-04, Vol.9 (1), p.5878-5878, Article 5878

2019

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A new role for the calcineurin/NFAT pathway in neonatal myosin heavy chain expression via the NFATc2/MyoD complex during mouse myogenesis

Development (Cambridge), 2013-12, Vol.140 (24), p.4914-4925

2013

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Correlation between severity and SMN protein level in spinal muscular atrophy

Nature genetics, 1997-07, Vol.16 (3), p.265-269

1997

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The Small-Molecule Flunarizine in Spinal Muscular Atrophy Patient Fibroblasts Impacts on the Gemin Components of the SMN Complex and TDP43, an RNA-Binding Protein Relevant to Motor Neuron Diseases

Frontiers in molecular biosciences, 2020-04, Vol.7, p.55-55

2020

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Identification and characterization of a spinal muscular atrophy-determining gene

Cell, 1995-01, Vol.80 (1), p.155-165

1995

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Understanding the Role of the SMN Complex Component GEMIN5 and Its Functional Relationship with Demethylase KDM6B in the Flunarizine-Mediated Neuroprotection of Motor Neuron Disease Spinal Muscular Atrophy

International journal of molecular sciences, 2024-09, Vol.25 (18), p.10039

2024

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Structure and Organization of the Human Survival Motor Neurone (SMN) Gene

Genomics (San Diego, Calif.), 1996-03, Vol.32 (3), p.479-482

1996

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De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies

Science (American Association for the Advancement of Science), 1994-06, Vol.264 (5164), p.1474-1477

1994

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A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

Nature genetics, 1995-11, Vol.11 (3), p.335-337

1995

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A link between agrin signalling and Ca v 3.2 at the neuromuscular junction in spinal muscular atrophy

Scientific reports, 2022-11, Vol.12 (1), p.18960

2022

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Author Correction: Collagen XXV promotes myoblast fusion during myogenic differentiation and muscle formation

Scientific reports, 2019-11, Vol.9 (1), p.17519-1, Article 17519

2019

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A role for protein phosphatase PP1γ in SMN complex formation and subnuclear localization to Cajal bodies

Journal of cell science, 2012-06, Vol.125 (Pt 12), p.2862-2874

2012

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Implication of the SMN complex in the biogenesis and steady state level of the signal recognition particle

Nucleic acids research, 2013-01, Vol.41 (2), p.1255-1272

2013

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Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy

Scientific reports, 2018-02, Vol.8 (1), p.2075-17, Article 2075

2018

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The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy

Human molecular genetics, 2009-04, Vol.18 (7), p.1181-1189

2009

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The Role of the SMN Gene in Proximal Spinal Muscular Atrophy

Human molecular genetics, 1998-01, Vol.7 (10), p.1531-1536

1998

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Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells

Journal of cell science, 2006-02, Vol.119 (4), p.680-692

2006

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A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy

Human molecular genetics, 2002-05, Vol.11 (9), p.1017-1027

2002

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The RNA-Binding Properties of SMN: Deletion Analysis of the Zebrafish Orthologue Defines Domains Conserved in Evolution

Human molecular genetics, 1999-05, Vol.8 (5), p.775-782

1999

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Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13

Annals of neurology, 2002-05, Vol.51 (5), p.585-592

2002

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The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease

American journal of human genetics, 1997, Vol.60 (1), p.72-79

1997

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Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease

Journal of medical genetics, 1996-04, Vol.33 (4), p.281-283

1996

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Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

The Journal of clinical investigation, 1996-09, Vol.98 (5), p.1130-1132

1996

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Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

Journal of medical genetics, 2001-04, Vol.38 (4), p.240-243

2001

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A link between agrin signalling and Cav3.2 at the neuromuscular junction in spinal muscular atrophy

Collagen XXV promotes myoblast fusion during myogenic differentiation and muscle formation

A new role for the calcineurin/NFAT pathway in neonatal myosin heavy chain expression via the NFATc2/MyoD complex during mouse myogenesis

Correlation between severity and SMN protein level in spinal muscular atrophy

The Small-Molecule Flunarizine in Spinal Muscular Atrophy Patient Fibroblasts Impacts on the Gemin Components of the SMN Complex and TDP43, an RNA-Binding Protein Relevant to Motor Neuron Diseases

Identification and characterization of a spinal muscular atrophy-determining gene

Understanding the Role of the SMN Complex Component GEMIN5 and Its Functional Relationship with Demethylase KDM6B in the Flunarizine-Mediated Neuroprotection of Motor Neuron Disease Spinal Muscular Atrophy

Structure and Organization of the Human Survival Motor Neurone (SMN) Gene

De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

A link between agrin signalling and Ca v 3.2 at the neuromuscular junction in spinal muscular atrophy

Author Correction: Collagen XXV promotes myoblast fusion during myogenic differentiation and muscle formation

A role for protein phosphatase PP1γ in SMN complex formation and subnuclear localization to Cajal bodies

Implication of the SMN complex in the biogenesis and steady state level of the signal recognition particle

Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy

The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy

The Role of the SMN Gene in Proximal Spinal Muscular Atrophy

Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy

The RNA-Binding Properties of SMN: Deletion Analysis of the Zebrafish Orthologue Defines Domains Conserved in Evolution

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13

The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

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