Publications:

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: Y512C

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: Y512C

PubMed Link: 35008593

Variant Present in the following documents:

• Main text

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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: Y512C

PubMed Link: 35008593

Variant Present in the following documents:

• Main text

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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: 1535A>G; Tyr512Cys

PubMed Link: 34214447

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.

Frontiers In Neurology

Massadeh, Salam S; Umair, Muhammad M; Alaamery, Manal M; Alfadhel, Majid M

Publication Date: 2019

Variant appearance in text: MTHFR: 1535A>G; Tyr512Cys

PubMed Link: 31068897

Variant Present in the following documents:

• Main text
• fneur-10-00411.pdf

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