Research map: A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

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  1. The STRING database in 2023: protein–protein association networks and functional enrichment analyses for any sequenced genome of interest · Damian Szklarczyk · 2022 · 9809 citations · Cited by this paper
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  21. Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. · Aune Hirvasniemi · 1994 · 91 citations · Cited by this paper
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  26. Significance of muscle biopsies in neuronal ceroid-lipofuscinoses. · H. Goebel · 1975 · 58 citations · Cited by this paper
  27. Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8 · Wayne A. Mitchell · 2001 · 57 citations · Cited by this paper
  28. Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean · Natalia Cannelli · 2006 · 55 citations · Cited by this paper
  29. Novel CLN3 mutation causing autophagic vacuolar myopathy · Andrea Cortese · 2014 · 43 citations · Cited by this paper
  30. The 2024 version of the gene table of neuromuscular disorders (nuclear genome) · Louise Benarroch · 2023 · 41 citations · Cited by this paper
  31. Isometric muscle strength and muscular endurance in normal persons aged between 17 and 70 years · Eva Johansson Backman · 1995 · 38 citations · Cited by this paper
  32. Northern epilepsy, a new member of the NCL family · Susanna Ranta · 2000 · 36 citations · Cited by this paper
  33. Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world · Charles Marques Lourenço · 2020 · 30 citations · Cited by this paper
  34. Multisystem proteinopathies (MSPs) and MSP‐like disorders: Clinical‐pathological‐molecular spectrum · Pitcha Chompoopong · 2023 · 30 citations · Cited by this paper
  35. Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency · Carola Hedberg‐Oldfors · 2024 · 17 citations · Cited by this paper
  36. Autophagic vacuolar myopathy is a common feature of CLN 3 disease · Josefine Radke · 2018 · 16 citations · Cited by this paper
  37. CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report · Magdalena Badura‐Stronka · 2021 · 14 citations · Cited by this paper
  38. A novel mutation of CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy · Laura Licchetta · 2015 · 13 citations · Cited by this paper
  39. 246th ENMC International Workshop: Protein aggregate myopathies 24–26 May 2019, Hoofddorp, The Netherlands · Montse Olivé · 2020 · 13 citations · Cited by this paper

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