Research map: Hereditary Polyneuropathy Experience of a Tertiary Single‐Center in Türkiye: Beyond the Tip of the Iceberg

Back to the article

Papers in this map

  1. Lower Motor and Primary Sensory Neuron Diseases With Peroneal Muscular Atrophy · P. James B. Dyck · 1968 · 594 citations · Cited by this paper
  2. Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants · 2026 · Related
  3. Clinical exome sequencing: results from 2819 samples reflecting 1000 families · Daniel Trujillano · 2016 · 381 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. Recent advances in the genetic neuropathies · Alexander Martin Rossor · 2016 · 116 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. Hereditary motor and sensory neuropathies or Charcot–Marie–Tooth diseases: An update · Mériem Tazir · 2014 · 94 citations · Cited by this paper
  8. Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation · 2026 · Related
  9. THE PREVALENCE OF CONSANGUINEOUS MARRIAGES AND AFFECTING FACTORS IN TURKEY: A NATIONAL SURVEY · Sena Kaplan · 2016 · 75 citations · Cited by this paper
  10. Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p. Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome) · 2026 · Related
  11. Updating the classification of inherited neuropathies · Laurent Magy · 2018 · 66 citations · Cited by this paper
  12. Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval · 2026 · Related
  13. Hereditary neuropathies: An update · Tanya Stojkovic · 2016 · 63 citations · Cited by this paper
  14. WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes · 2026 · Related
  15. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies · Michaela Auer‐Grumbach · 2016 · 61 citations · Cited by this paper
  16. Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly · 2026 · Related
  17. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K · Claudia Crimella · 2010 · 52 citations · Cited by this paper
  18. Non‐Coding c.* 6C >T Variant in RBM8A Associated With Thrombocytopenia‐Absent Radius ( TAR ) Syndrome in Three Indian Patients · 2026 · Related
  19. Why screen newborns for profound and partial biotinidase deficiency? · Barry Wolf · 2015 · 47 citations · Cited by this paper
  20. From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy · 2026 · Related
  21. High frequency of biotinidase deficiency in Italian population identified by newborn screening · Silvia Funghini · 2020 · 22 citations · Cited by this paper
  22. PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E · David S. Wang · 2017 · 14 citations · Cited by this paper
  23. Severe phenotypes in a Charcot–Marie–Tooth 1A patient with PMP22 triplication · Sung Min Kim · 2014 · 12 citations · Cited by this paper
  24. Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD · Andrea Cortese · 2025 · 11 citations · Cited by this paper
  25. Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults · Elizabeth R. Kellom · 2020 · 7 citations · Cited by this paper
  26. PMP22-Related Neuropathies: A Systematic Review · Carlo Alberto Cesaroni · 2025 · 7 citations · Cited by this paper
  27. Delineating the genetic landscape of Charcot–Marie–tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants · Arman Çakar · 2025 · 3 citations · Cited by this paper
  28. Digenesis in Charcot–Marie–Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes · Endrit Shumeri · 2025 · 2 citations · Cited by this paper

Source: OpenAlex (CC0)