Publications:

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Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.

Genes

Barretta, Ferdinando F; Uomo, Fabiana F; Fecarotta, Simona S; Albano, Lucia L; Crisci, Daniela D; Verde, Alessandra A; Fisco, Maria Grazia MG; Gallo, Giovanna G; Dottore Stagna, Daniela D; Pricolo, Maria Rosaria MR; Alagia, Marianna M; Terrone, Gaetano G; Rossi, Alessandro A; Parenti, Giancarlo G; Ruoppolo, Margherita M; Mazzaccara, Cristina C; Frisso, Giulia G

Publication Date: 2023-04-26

Variant appearance in text: MTHFR: 973C>T

PubMed Link: 37239340

Variant Present in the following documents:

• Main text
• genes-14-00980.pdf

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Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.

Annals Of Indian Academy Of Neurology

Padmanabha, Hansashree H; Mahale, Rohan R; Christopher, Rita R; Arunachal, Gautham G; Bhat, Maya M; Mondal, Mahammad Samim MS; Anjanappa, Ram Murthy RM; Mundlamuri, Ravindranadh Chowdhary RC; Yadav, Ravi R; Vengalil, Seena S; Mailankody, Pooja P; Mathuranath, Pavagada S PS; Chandra, Sadanandavalli R SR; Nalini, Atchayaram A

Publication Date: 2021

Variant appearance in text: MTHFR: 973C>T; Arg325Cys

PubMed Link: 35359558

Variant Present in the following documents:

• AIAN-24-908.pdf

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A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences

Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R

Publication Date: 2021-12-23

Variant appearance in text: MTHFR: R325C

PubMed Link: 35008593

Variant Present in the following documents:

• Main text
• ijms-23-00167.pdf

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A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences

Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R

Publication Date: 2021-12-23

Variant appearance in text: MTHFR: R325C

PubMed Link: 35008593

Variant Present in the following documents:

• Main text
• ijms-23-00167.pdf

View BVdb publication page

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Phoenix from the ashes: dramatic improvement in severe late-onset methylenetetrahydrofolate reductase (MTHFR) deficiency with a complete loss of vision.

Journal Of Neurology

Biesalski, Anne-Sophie AS; Hoffjan, Sabine S; Schneider, Ruth R; Nguyen, Huu Phuc HP; Dekomien, Gabriele G; Lücke, Thomas T; Schneider-Gold, Christiane C; Matusche, Britta B; Gold, Ralf R; Ayzenberg, Ilya I

Publication Date: 2022-04

Variant appearance in text: MTHFR: Arg325Cys

PubMed Link: 34657180

Variant Present in the following documents:

• Main text
• 415_2021_Article_10841.pdf

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Shifting landscapes of human MTHFR missense-variant effects.

American Journal Of Human Genetics

Weile, Jochen J; Kishore, Nishka N; Sun, Song S; Maaieh, Ranim R; Verby, Marta M; Li, Roujia R; Fotiadou, Iosifina I; Kitaygorodsky, Julia J; Wu, Yingzhou Y; Holenstein, Alexander A; Bürer, Céline C; Blomgren, Linnea L; Yang, Shan S; Nussbaum, Robert R; Rozen, Rima R; Watkins, David D; Gebbia, Marinella M; Kozich, Viktor V; Garton, Michael M; Froese, D Sean DS; Roth, Frederick P FP

Publication Date: 2021-07-01

Variant appearance in text: MTHFR: 973C>T; Arg325Cys

PubMed Link: 34214447

Variant Present in the following documents:

• Main text
• mmc6.pdf
• mmc4.xlsx, sheet 1
• main.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: MTHFR: R325C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MTHFR: R325C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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