Literature DB >> 21131308

Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations.

Deborah Bathgate, Patrick Yu-Wai-Man, Brian Webb, Robert W Taylor, Brian Fowler, Patrick F Chinnery.   

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Year:  2010        PMID： 21131308     DOI： 10.1136/jnnp.2010.218586

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  3 in total

1.  Adult-onset methylenetetrahydrofolate reductase deficiency.

Authors:  Daniela Vieira; Cristina Florindo; Isabel Tavares de Almeida; Maria Carmo Macário
Journal:  BMJ Case Rep       Date:  2020-03-10

2.  Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association.

Authors:  Rohan R Mahale; Jyothi Gautam; Gautam Arunachal; Sandhya Alappati; Nibu Varghese; Jennifer Kovoor; Pooja Mailankody; Hansashree Padmanabha; Mathuranath Pavagada
Journal:  J Pediatr Neurosci       Date:  2021-07-12

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

Authors:  Hansashree Padmanabha; Rohan Mahale; Rita Christopher; Gautham Arunachal; Maya Bhat; Mahammad Samim Mondal; Ram Murthy Anjanappa; Ravindranadh Chowdhary Mundlamuri; Ravi Yadav; Seena Vengalil; Pooja Mailankody; Pavagada S Mathuranath; Sadanandavalli R Chandra; Atchayaram Nalini
Journal:  Ann Indian Acad Neurol       Date:  2021-12-14       Impact factor: 1.383
  3 in total

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