280 related articles for article (PubMed ID: 36241230)
1. [Genetic distribution in Chinese patients with hereditary peripheral neuropathy].
Liu XX; Duan XH; Zhang S; Sun AP; Zhang YS; Fan DS
Beijing Da Xue Xue Bao Yi Xue Ban; 2022 Oct; 54(5):874-883. PubMed ID: 36241230
[TBL] [Abstract][Full Text] [Related]
2. Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu X; Duan X; Zhang Y; Sun A; Fan D
Eur J Neurol; 2020 Jul; 27(7):1319-1326. PubMed ID: 32298515
[TBL] [Abstract][Full Text] [Related]
3. The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease.
Yalcintepe S; Gurkan H; Dogan IG; Demir S; Sag SO; Kabayegit ZM; Atli EI; Atli E; Eker D; Temel SG
Turk Neurosurg; 2021; 31(6):888-895. PubMed ID: 34169998
[TBL] [Abstract][Full Text] [Related]
4. Expanding the spectrum of genes responsible for hereditary motor neuropathies.
Previtali SC; Zhao E; Lazarevic D; Pipitone GB; Fabrizi GM; Manganelli F; Mazzeo A; Pareyson D; Schenone A; Taroni F; Vita G; Bellone E; Ferrarini M; Garibaldi M; Magri S; Padua L; Pennisi E; Pisciotta C; Riva N; Scaioli V; Scarlato M; Tozza S; Geroldi A; Jordanova A; Ferrari M; Molineris I; Reilly MM; Comi G; Carrera P; Devoto M; Bolino A
J Neurol Neurosurg Psychiatry; 2019 Oct; 90(10):1171-1179. PubMed ID: 31167812
[TBL] [Abstract][Full Text] [Related]
5. Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
[TBL] [Abstract][Full Text] [Related]
6. The distal hereditary motor neuropathies.
Rossor AM; Kalmar B; Greensmith L; Reilly MM
J Neurol Neurosurg Psychiatry; 2012 Jan; 83(1):6-14. PubMed ID: 22028385
[TBL] [Abstract][Full Text] [Related]
7. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Rohkamm B; Reilly MM; Lochmüller H; Schlotter-Weigel B; Barisic N; Schöls L; Nicholson G; Pareyson D; Laurà M; Janecke AR; Miltenberger-Miltenyi G; John E; Fischer C; Grill F; Wakeling W; Davis M; Pieber TR; Auer-Grumbach M
J Neurol Sci; 2007 Dec; 263(1-2):100-6. PubMed ID: 17663003
[TBL] [Abstract][Full Text] [Related]
8. [Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].
Takashima H
Rinsho Shinkeigaku; 2014; 54(12):957-9. PubMed ID: 25672680
[TBL] [Abstract][Full Text] [Related]
9. Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.
Xie Y; Lin Z; Liu L; Li X; Huang S; Zhao H; Wang B; Zeng S; Cao W; Li L; Zhu X; Huang S; Yang H; Wang M; Hu Z; Wang J; Guo J; Shen L; Jiang H; Zuchner S; Tang B; Zhang R
Eur J Neurol; 2021 Nov; 28(11):3774-3783. PubMed ID: 34255403
[TBL] [Abstract][Full Text] [Related]
10. Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies.
Drew AP; Blair IP; Nicholson GA
Curr Mol Med; 2011 Nov; 11(8):650-65. PubMed ID: 21902652
[TBL] [Abstract][Full Text] [Related]
11. Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes.
Nicholson G; Kennerson M; Brewer M; Garbern J; Shy M
Adv Exp Med Biol; 2009; 652():201-6. PubMed ID: 20225027
[TBL] [Abstract][Full Text] [Related]
12. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.
Houlden H; Laura M; Wavrant-De Vrièze F; Blake J; Wood N; Reilly MM
Neurology; 2008 Nov; 71(21):1660-8. PubMed ID: 18832141
[TBL] [Abstract][Full Text] [Related]
13. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Dierick I; Baets J; Irobi J; Jacobs A; De Vriendt E; Deconinck T; Merlini L; Van den Bergh P; Rasic VM; Robberecht W; Fischer D; Morales RJ; Mitrovic Z; Seeman P; Mazanec R; Kochanski A; Jordanova A; Auer-Grumbach M; Helderman-van den Enden AT; Wokke JH; Nelis E; De Jonghe P; Timmerman V
Brain; 2008 May; 131(Pt 5):1217-27. PubMed ID: 18325928
[TBL] [Abstract][Full Text] [Related]
14. Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies.
Haidar M; Asselbergh B; Adriaenssens E; De Winter V; Timmermans JP; Auer-Grumbach M; Juneja M; Timmerman V
Autophagy; 2019 Jun; 15(6):1051-1068. PubMed ID: 30669930
[TBL] [Abstract][Full Text] [Related]
15. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
16. Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D; Saveri P; Sagnelli A; Piscosquito G
Neurosci Lett; 2015 Jun; 596():66-77. PubMed ID: 25847151
[TBL] [Abstract][Full Text] [Related]
17. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF; Glöckle N; Mulahasanovic L; Heller C; Mohr J; Bauer C; Riesch E; Becker A; Battke F; Hörtnagel K; Hornemann T; Suriyanarayanan S; Blankenburg M; Schulz JB; Claeys KG; Gess B; Katona I; Ferbert A; Vittore D; Grimm A; Wolking S; Schöls L; Lerche H; Korenke GC; Fischer D; Schrank B; Kotzaeridou U; Kurlemann G; Dräger B; Schirmacher A; Young P; Schlotter-Weigel B; Biskup S
J Neurochem; 2017 Dec; 143(5):507-522. PubMed ID: 28902413
[TBL] [Abstract][Full Text] [Related]
18. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C; Pedace L; Lo Giudice T; Casella A; Mearini M; Gaudiello F; Pedroso JL; Terracciano C; Caltagirone C; Massa R; St George-Hyslop PH; Barsottini OG; Kawarai T; Orlacchio A
Brain; 2016 Jan; 139(Pt 1):73-85. PubMed ID: 26556829
[TBL] [Abstract][Full Text] [Related]
19. Distal hereditary motor neuropathies.
Tazir M; Nouioua S
Rev Neurol (Paris); 2024 May; ():. PubMed ID: 38702287
[TBL] [Abstract][Full Text] [Related]
20. Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M; Rojas-García R; Argente-Escrig H; Vázquez-Costa JF; Muelas N; Vílchez JJ; Sivera R; Millet E; Barreiro M; Díaz-Manera J; Turon-Sans J; Cortés-Vicente E; Querol L; Ramírez-Jiménez L; Martínez-Rubio D; Sánchez-Monteagudo A; Espinós C; Sevilla T; Lupo V
Eur J Neurol; 2021 Apr; 28(4):1334-1343. PubMed ID: 33369814
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
