Publications:

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Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Current Issues In Molecular Biology

De Filippi, Paola P; Errichiello, Edoardo E; Toscano, Antonio A; Mongini, Tiziana T; Moggio, Maurizio M; Ravaglia, Sabrina S; Filosto, Massimiliano M; Servidei, Serenella S; Musumeci, Olimpia O; Giannini, Fabio F; Piperno, Alberto A; Siciliano, Gabriele G; Ricci, Giulia G; Di Muzio, Antonio A; Rigoldi, Miriam M; Tonin, Paola P; Croce, Michele Giovanni MG; Pegoraro, Elena E; Politano, Luisa L; Maggi, Lorenzo L; Telese, Roberta R; Lerario, Alberto A; Sancricca, Cristina C; Vercelli, Liliana L; Semplicini, Claudio C; Pasanisi, Barbara B; Bembi, Bruno B; Dardis, Andrea A; Palmieri, Ilaria I; Cereda, Cristina C; Valente, Enza Maria EM; Danesino, Cesare C

Publication Date: 2023-04-01

Variant appearance in text: GAA: 510C>T

PubMed Link: 37185710

Variant Present in the following documents:

• Main text
• cimb-45-00186.pdf

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: GAA: 510C>T

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8

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Newborn screening for Pompe disease in Italy: Long-term results and future challenges.

Molecular Genetics And Metabolism Reports

Gragnaniello, Vincenza V; Pijnappel, Pim W W M PWWM; Burlina, Alessandro P AP; In 't Groen, Stijn L M SLM; Gueraldi, Daniela D; Cazzorla, Chiara C; Maines, Evelina E; Polo, Giulia G; Salviati, Leonardo L; Di Salvo, Giovanni G; Burlina, Alberto B AB

Publication Date: 2022-12

Variant appearance in text: GAA: 510C>T

PubMed Link: 36310651

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.

Orphanet Journal Of Rare Diseases

van Kooten, Harmke A HA; Ditters, Imke A M IAM; Hoogeveen-Westerveld, Marianne M; Jacobs, Edwin H EH; van den Hout, Johanna M P JMP; van Doorn, Pieter A PA; Pijnappel, W W M Pim WWMP; van der Ploeg, Ans T AT; van der Beek, Nadine A M E NAME

Publication Date: 2022-02-02

Variant appearance in text: GAA: 510C>T

PubMed Link: 35109913

Variant Present in the following documents:

• 13023_2022_Article_2175.pdf

View BVdb publication page

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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.

Orphanet Journal Of Rare Diseases

van Kooten, Harmke A HA; Ditters, Imke A M IAM; Hoogeveen-Westerveld, Marianne M; Jacobs, Edwin H EH; van den Hout, Johanna M P JMP; van Doorn, Pieter A PA; Pijnappel, W W M Pim WWMP; van der Ploeg, Ans T AT; van der Beek, Nadine A M E NAME

Publication Date: 2022-02-02

Variant appearance in text: GAA: 510C>T

PubMed Link: 35109913

Variant Present in the following documents:

• 13023_2022_Article_2175.pdf

View BVdb publication page

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Broad variation in phenotypes for common GAA genotypes in Pompe disease.

Human Mutation

Niño, Monica Y MY; In't Groen, Stijn L M SLM; de Faria, Douglas O S DOS; Hoogeveen-Westerveld, Marianne M; van den Hout, Hannerieke J M P HJMP; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-11

Variant appearance in text: GAA: 510C>T

PubMed Link: 34405923

Variant Present in the following documents:

• Main text
• HUMU-42-1461.pdf

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 510C>T; rs564758226

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 510C>T; rs564758226

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

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The rapidly evolving view of lysosomal storage diseases.

Embo Molecular Medicine

Parenti, Giancarlo G; Medina, Diego L DL; Ballabio, Andrea A

Publication Date: 2021-02-05

Variant appearance in text: GAA: 510C>T

PubMed Link: 33459519

Variant Present in the following documents:

• EMMM-13-e12836.pdf

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A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.

European Journal Of Human Genetics : Ejhg

Bergsma, Atze J AJ; In 't Groen, Stijn L M SLM; Catalano, Fabio F; Yamanaka, Manjiro M; Takahashi, Satoru S; Okumiya, Toshika T; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2021-03

Variant appearance in text: GAA: 510C>T

PubMed Link: 33168984

Variant Present in the following documents:

• Main text
• 41431_2020_Article_751.pdf

View BVdb publication page

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Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

European Journal Of Human Genetics : Ejhg

Niño, Monica Y MY; Wijgerde, Mark M; de Faria, Douglas Oliveira Soares DOS; Hoogeveen-Westerveld, Marianne M; Bergsma, Atze J AJ; Broeders, Mike M; van der Beek, Nadine A M E NAME; van den Hout, Hannerieke J M HJM; van der Ploeg, Ans T AT; Verheijen, Frans W FW; Pijnappel, W W M Pim WWMP

Publication Date: 2021-03

Variant appearance in text: GAA: 510C>T

PubMed Link: 33162552

Variant Present in the following documents:

• Main text

View BVdb publication page

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: GAA: 510C>T

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

Molecular Therapy. Methods & Clinical Development

In 't Groen, Stijn L M SLM; de Faria, Douglas O S DOS; Iuliano, Alessandro A; van den Hout, Johanna M P JMP; Douben, Hannie H; Dijkhuizen, Trijnie T; Cassiman, David D; Witters, Peter P; Barba Romero, Miguel-Ángel MÁ; de Klein, Annelies A; Somers-Bolman, Galhana M GM; Saris, Jasper J JJ; Hoefsloot, Lies H LH; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2020-06-12

Variant appearance in text: GAA: 510C>T

PubMed Link: 32071926

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.pdf

View BVdb publication page

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Diagnostic tools in late onset Pompe disease (LOPD).

Annals Of Translational Medicine

Musumeci, Olimpia O; Toscano, Antonio A

Publication Date: 2019-07

Variant appearance in text: GAA: 510C>T

PubMed Link: 31392198

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular genetics of Pompe disease: a comprehensive overview.

Annals Of Translational Medicine

Peruzzo, Paolo P; Pavan, Eleonora E; Dardis, Andrea A

Publication Date: 2019-07

Variant appearance in text: GAA: 510C>T

PubMed Link: 31392190

Variant Present in the following documents:

• Main text

View BVdb publication page

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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation

Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,

Publication Date: 2019-11

Variant appearance in text: GAA: 510C>T; Asp170Asp

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

View BVdb publication page

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Silent but significant - A synonymous SNV alters prognosis in Pompe disease.

Ebiomedicine

Lukas, Jan J; Hermann, Andreas A; Giese, Anne-Katrin AK

Publication Date: 2019-05

Variant appearance in text: rs564758226

PubMed Link: 30982766

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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A genetic modifier of symptom onset in Pompe disease.

Ebiomedicine

Bergsma, Atze J AJ; In 't Groen, Stijn L M SLM; van den Dorpel, Jan J A JJA; van den Hout, Hannerieke J M P HJMP; van der Beek, Nadine A M E NAME; Schoser, Benedikt B; Toscano, Antonio A; Musumeci, Olimpia O; Bembi, Bruno B; Dardis, Andrea A; Morrone, Amelia A; Tummolo, Albina A; Pasquini, Elisabetta E; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2019-05

Variant appearance in text: GAA: 510C>T

PubMed Link: 30922962

Variant Present in the following documents:

• Main text
• mmc1.pdf

View BVdb publication page

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The ERBB-STAT3 Axis Drives Tasmanian Devil Facial Tumor Disease.

Cancer Cell

Kosack, Lindsay L; Wingelhofer, Bettina B; Popa, Alexandra A; Orlova, Anna A; Agerer, Benedikt B; Vilagos, Bojan B; Majek, Peter P; Parapatics, Katja K; Lercher, Alexander A; Ringler, Anna A; Klughammer, Johanna J; Smyth, Mark M; Khamina, Kseniya K; Baazim, Hatoon H; de Araujo, Elvin D ED; Rosa, David A DA; Park, Jisung J; Tin, Gary G; Ahmar, Siawash S; Gunning, Patrick T PT; Bock, Christoph C; Siddle, Hannah V HV; Woods, Gregory M GM; Kubicek, Stefan S; Murchison, Elizabeth P EP; Bennett, Keiryn L KL; Moriggl, Richard R; Bergthaler, Andreas A

Publication Date: 2019-01-14

Variant appearance in text: GAA: Asp170Asp

PubMed Link: 30645971

Variant Present in the following documents:

• mmc5.xlsx, sheet 4

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: GAA: 510C>T

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases

Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A

Publication Date: 2015-01

Variant appearance in text: GAA: Asp170Asp

PubMed Link: 25568942

Variant Present in the following documents:

• pntd.0003404.s019.xlsx, sheet 1

View BVdb publication page

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