Wilmshurst JM, Ouvrier R. Hereditary peripheral neuropathies of childhood: an overview for clinicians. Neuromuscul Disord. 2011;21:763–75.
Article
PubMed
Google Scholar
Fusco C, Frattini D, Farnetti E, Nicoli D, Casali B, Fiorentino F, et al. Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3Ade novo mutation. Brain and Development. 2010;32:592–4.
Article
PubMed
Google Scholar
Fusco C, Frattini D, Farnetti E, Nicoli D, Casali B, Della GE. Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation. J Child Neurol. 2012;27:1348–50.
Article
PubMed
Google Scholar
Fusco C, Frattini D, Panteghini C, Pascarella R, Garavaglia BA. Case of infantile neuroaxonal dystrophy of neonatal onset. J Child Neurol. 2015;30:368–70.
Article
PubMed
Google Scholar
Fusco C, Frattini D, Pisani F, Spaggiari F, Ferlini A, Della Giustina E. Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient. J Child Neurol. 2010;25:759–63.
Article
PubMed
Google Scholar
Chrestian N, McMillan H, Poulin C, Campbell C, Vajsar J. Hereditary neuropathy with liability to pressure palsies in childhood: case series and literature update. Neuromuscul Disord. 2015;25:693–8.
Article
PubMed
Google Scholar
Pareyson D, Solari A, Taroni F, Botti S, Fallica E, Scaioli V, et al. Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy. Muscle Nerve. 1998;21:1686–91.
Article
CAS
PubMed
Google Scholar
Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O, et al. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology. 1999;52:1440–6.
Article
CAS
PubMed
Google Scholar
Fusco C, Frattini D, Scarano A, Giustina ED. Congenital pes cavus in a Charcot-Marie-Tooth disease type 1A newborn. Pediatr Neurol. 2009;40:461–4.
Article
PubMed
Google Scholar
Guo J, Wang L, Zhang Y, Wu J, Arpag S, Hu B, et al. Abnormal junctions and permeability of myelin in PMP22-deficient nerves. Ann Neurol. 2014;75:255–65.
Article
CAS
PubMed
PubMed Central
Google Scholar
Gabreëls-Festen AA, Gabreëls FJ, Joosten EM, Vingerhoets HM, Renier WO. Hereditary neuropathy with liability to pressure palsies in childhood. Neuropediatrics. 1992;23:138–43.
Article
PubMed
Google Scholar
Meretoja P, Silander K, Kalimo H, Aula P, Meretoja A, Savontaus ML. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Neuromuscul Disord. 1997;7:529–32.
Article
CAS
PubMed
Google Scholar
Hardon WJ, Van Alfen N, Zwarts MJ, Rotteveel JJ. Hereditary neuropathy with liability to pressure palsies in a toddler. Neurology. 2002;59(12):2008.
Article
CAS
PubMed
Google Scholar
Goikhman I, Meer J, Zelnik N. Hereditary neuropathy with liability to pressure palsies in infancy. Pediatr Neurol. 2003;28:307–9.
Article
PubMed
Google Scholar
Potulska-Chromik A, Sinkiewicz-Darol E, Ryniewicz B, Lipowska M, Kabzińska D, Kochański A, et al. Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. Muscle Nerve. 2014;50:914–8.
Article
CAS
PubMed
Google Scholar
Spagnoli C, Iodice A, Salerno GG, Frattini D, Bertani G, Fusco C. Hereditary neuropathy with liability to pressure palsies in childhood: case series and literature update. Neuromuscul Disord. 2016;26:394.
Article
PubMed
Google Scholar
Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, et al. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet. 1994;6:263–6.
Article
CAS
PubMed
Google Scholar
van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. Orphanet J Rare Dis. 2014;9:38.
Article
PubMed
PubMed Central
Google Scholar
Lenssen PP, Gabreëls-Festen AA, Valentijn LJ, Jongen PJ, van Beersum SE, van Engelen BG, et al. Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. Brain. 1998;121:1451–8.
Article
PubMed
Google Scholar
Bellone E, Balestra P, Ribizzi G, Schenone A, Zocchi G, Di Maria E, et al. An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP. J Neurol Neurosurg Psychiatry. 2006;77:538–40.
Article
CAS
PubMed
Google Scholar
Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME, et al. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Arch Neurol. 2007;64:974–8.
Article
PubMed
Google Scholar
Muglia M, Patitucci A, Rizzi R, Ungaro C, Conforti FL, Gabriele AL, et al. A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. J Neurol Sci. 2007;263:194–7.
Article
CAS
PubMed
Google Scholar
Moszyńska I, Kabzińska D, Sinkiewicz-Darol E, Kochański AA. Newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies. Acta Biochim Pol. 2009;56:627–30.
PubMed
Google Scholar
Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. Brain. 2011;134:608–17.
Article
PubMed
Google Scholar
Yurrebaso I, Casado OL, Barcena J, Perez de Nanclares G, Aguirre U. Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation. Neuromuscul Disord. 2014;24(1):56–62.
Article
PubMed
Google Scholar
Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, et al. T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol. 2006;59(2):358–64.
Article
CAS
PubMed
Google Scholar
Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, et al. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet. 1993;5(2):189–94.
Article
CAS
PubMed
Google Scholar
Nelis E, Holmberg B, Adolfsson R, Holmgren G, van Broeckhoven C. PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism? Nat Genet. 1997;15(1):13–4.
Article
CAS
PubMed
Google Scholar
Al-Thihli K, Rudkin T, Carson N, Poulin C, Melançon S, Der Kaloustian VM. Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. Am J Med Genet A. 2008;146A(18):2412–6.
Article
PubMed
Google Scholar
Abe A, Nakamura K, Kato M, Numakura C, Honma T, Seiwa C, et al. Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1. J Hum Genet. 2010;55:771–3.
Article
PubMed
Google Scholar
Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, et al. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Hum Genet. 1997;99(6):746–54.
Article
CAS
PubMed
Google Scholar