Publications:

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Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.

Genes

Niba, Emma Tabe Eko ETE; Nishio, Hisahide H; Wijaya, Yogik Onky Silvana YOS; Ar Rochmah, Mawaddah M; Takarada, Toru T; Takeuchi, Atsuko A; Kimizu, Tomokazu T; Okamoto, Kentaro K; Saito, Toshio T; Awano, Hiroyuki H; Takeshima, Yasuhiro Y; Shinohara, Masakazu M

Publication Date: 2022-01-24

Variant appearance in text: SMA: 399_402del

PubMed Link: 35205250

Variant Present in the following documents:

• genes-13-00205.pdf

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SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.

Frontiers In Neurology

Bowen, B Monica BM; Truty, Rebecca R; Aradhya, Swaroop S; Bristow, Sara L SL; Johnson, Britt A BA; Morales, Ana A; Tan, Christopher A CA; Westbrook, M Jody MJ; Winder, Thomas L TL; Chavez, Juan C JC

Publication Date: 2021

Variant appearance in text: SMA: 399_402del

PubMed Link: 34025568

Variant Present in the following documents:

• fneur-12-663911.pdf

View BVdb publication page

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Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.

Human Mutation

Blasco-Pérez, Laura L; Paramonov, Ida I; Leno, Jordi J; Bernal, Sara S; Alias, Laura L; Fuentes-Prior, Pablo P; Cuscó, Ivon I; Tizzano, Eduardo F EF

Publication Date: 2021-06

Variant appearance in text: SMN1: 399_402del

PubMed Link: 33739559

Variant Present in the following documents:

• Main text
• HUMU-42-787.pdf

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Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance.

The Application Of Clinical Genetics

Keinath, Melissa C MC; Prior, Devin E DE; Prior, Thomas W TW

Publication Date: 2021

Variant appearance in text: SMN1: 399_402del

PubMed Link: 33531827

Variant Present in the following documents:

• tacg-14-11.pdf

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Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Brain Communications

Wadman, Renske I RI; Jansen, Marc D MD; Stam, Marloes M; Wijngaarde, Camiel A CA; Curial, Chantall A D CAD; Medic, Jelena J; Sodaar, Peter P; Schouten, Jan J; Vijzelaar, Raymon R; Lemmink, Henny H HH; van den Berg, Leonard H LH; Groen, Ewout J N EJN; van der Pol, W Ludo WL

Publication Date: 2020

Variant appearance in text: SMN1: 399_402del

PubMed Link: 32954327

Variant Present in the following documents:

• fcaa075_supplementary_data.pdf

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Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.

European Journal Of Human Genetics : Ejhg

Serra-Juhe, Clara C; Tizzano, Eduardo F EF

Publication Date: 2019-12

Variant appearance in text: SMN1: 399_402del

PubMed Link: 31053787

Variant Present in the following documents:

• 41431_2019_Article_415.pdf

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Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.

Plos One

Carson, Vincent J VJ; Puffenberger, Erik G EG; Bowser, Lauren E LE; Brigatti, Karlla W KW; Young, Millie M; Korulczyk, Dominika D; Rodrigues, Ashlin S AS; Loeven, KaLynn K KK; Strauss, Kevin A KA

Publication Date: 2018

Variant appearance in text: SMN1: 399_402del

PubMed Link: 30188899

Variant Present in the following documents:

• pone.0202104.pdf

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Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons.

Scientific Reports

Boza-Morán, María G MG; Martínez-Hernández, Rebeca R; Bernal, Sara S; Wanisch, Klaus K; Also-Rallo, Eva E; Le Heron, Anita A; Alías, Laura L; Denis, Cécile C; Girard, Mathilde M; Yee, Jiing-Kuan JK; Tizzano, Eduardo F EF; Yáñez-Muñoz, Rafael J RJ

Publication Date: 2015-06-26

Variant appearance in text: SMN1: 399_402delAGAG

PubMed Link: 26114395

Variant Present in the following documents:

• Main text
• srep11696.pdf
• srep11696-s1.pdf

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Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.

Bmc Medical Genetics

Yu-Jin, Qu Q; Juan, Du D; Er-zhen, Li L; Jin-li, Bai B; Yu-wei, Jin J; Hong, Wang W; Fang, Song S

Publication Date: 2012-09-20

Variant appearance in text: SMN1: 399_402del

PubMed Link: 22994313

Variant Present in the following documents:

• 1471-2350-13-86.pdf

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Spinal muscular atrophy.

Orphanet Journal Of Rare Diseases

D'Amico, Adele A; Mercuri, Eugenio E; Tiziano, Francesco D FD; Bertini, Enrico E

Publication Date: 2011-11-02

Variant appearance in text: SMA: 399_402del

PubMed Link: 22047105

Variant Present in the following documents:

• 1750-1172-6-71.pdf

View BVdb publication page

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Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.

European Journal Of Human Genetics : Ejhg

Also-Rallo, Eva E; Alías, Laura L; Martínez-Hernández, Rebeca R; Caselles, Lidia L; Barceló, María J MJ; Baiget, Montserrat M; Bernal, Sara S; Tizzano, Eduardo F EF

Publication Date: 2011-10

Variant appearance in text: SMN1: 399_402del

PubMed Link: 21610752

Variant Present in the following documents:

• Main text

View BVdb publication page

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