Research map: Spinal Muscular Atrophy in Adult Neurology Services in India

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Papers in this map

  1. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go · Tamara Dangouloff · 2021 · 178 citations · Cited by this paper
  2. Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants · 2026 · Related
  3. Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review · Chia-Wei Lin · 2015 · 169 citations · Cited by this paper
  4. Chorea‐Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant · 2026 · Related
  5. Missing female patients: an observational analysis of sex ratio among outpatients in a referral tertiary care public hospital in India · Mudit Kapoor · 2019 · 117 citations · Cited by this paper
  6. Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans · 2026 · Related
  7. Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States · Cathy A. Lally · 2017 · 103 citations · Cited by this paper
  8. Hereditary Polyneuropathy Experience of a Tertiary Single‐Center in Türkiye: Beyond the Tip of the Iceberg · 2026 · Related
  9. Prevalence and determinants of consanguineous marriage and its types in India: evidence from the National Family Health Survey, 2015–2016 · Santosh Kumar Sharma · 2020 · 55 citations · Cited by this paper
  10. Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation · 2026 · Related
  11. Different molecular basis for spinal muscular atrophy in South African black patients · Gwynneth Stevens · 1999 · 27 citations · Cited by this paper
  12. Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p. Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome) · 2026 · Related
  13. Carrier frequency of SMN1 ‐related spinal muscular atrophy in north Indian population: The need for population based screening program · Mayank Nilay · 2020 · 24 citations · Cited by this paper
  14. Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval · 2026 · Related
  15. Spinal Muscular Atrophy · Maryam Oskoui · 2023 · 19 citations · Cited by this paper
  16. WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes · 2026 · Related
  17. Carrier screening of spinal muscular atrophy in North Indian population and its public health implications · Ishwar C. Verma · 2020 · 16 citations · Cited by this paper
  18. Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly · 2026 · Related
  19. Type III Spinal Muscular Atrophy Mimicking Muscular Dystrophies · Abdulaziz Alsaman · 2013 · 12 citations · Cited by this paper
  20. Non‐Coding c.* 6C >T Variant in RBM8A Associated With Thrombocytopenia‐Absent Radius ( TAR ) Syndrome in Three Indian Patients · 2026 · Related
  21. Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients · Hisahide Nishio · 2024 · 11 citations · Cited by this paper
  22. Spinal Muscular Atrophy Therapeutics in India: Parental Hopes and Despair! · Renu Suthar · 2021 · 7 citations · Cited by this paper
  23. Genotype – phenotype correlation of Spinal Muscular Atrophy in the era of disease modifying therapies: A tertiary Indian experience · R. Ramesh Babu · 2025 · 2 citations · Cited by this paper

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