McGlone F, Reilly D. The cutaneous sensory system. Neurosci Biobehav Rev. 2010;34:148–59.
PubMed
CrossRef
Google Scholar
Doppler K, Rittner HL, Deckart M, Sommer C. Reduced dermal nerve fiber diameter in skin biopsies of patients with fibromyalgia. Pain. 2015;156:2319–25.
CAS
CrossRef
PubMed
Google Scholar
Nolano M, Provitera V, Crisci C, Stancanelli A, Wendelschafer-Crabb G, Kennedy WR, et al. Quantification of myelinated endings and mechanoreceptors in human digital skin. Ann Neurol. 2003;54:197–205.
PubMed
CrossRef
Google Scholar
Wang L, Hilliges M, Jernberg T, Wiegleb-Edstrom D, Johansson O. Protein gene product 9.5-immunoreactive nerve fibres and cells in human skin. Cell Tissue Res. 1990;261:25–33.
CAS
PubMed
CrossRef
Google Scholar
Kennedy WR, Wendelschafer-Crabb G. The innervation of human epidermis. J Neurol Sci. 1993;115:184–90.
CAS
CrossRef
PubMed
Google Scholar
McCarthy BG, Hsieh ST, Stocks A, Hauer P, Macko C, Cornblath DR, et al. Cutaneous innervation in sensory neuropathies: evaluation by skin biopsy. Neurology. 1995;45:1848–55.
CAS
PubMed
CrossRef
Google Scholar
McArthur JC, Stocks EA, Hauer P, Cornblath DR, Griffin JW. Epidermal nerve fiber density: normative reference range and diagnostic efficiency. Arch Neurol. 1998;55:1513–20.
CAS
PubMed
CrossRef
Google Scholar
Lauria G, Cornblath DR, Johansson O, McArthur JC, Mellgren SI, Nolano M, et al. EFNS guidelines on the use of skin biopsy in the diagnosis of peripheral neuropathy. Eur J Neurol. 2005;12:747–58.
CAS
PubMed
CrossRef
Google Scholar
Lauria G, Borgna M, Morbin M, Lombardi R, Mazzoleni G, Sghirlanzoni A, et al. Tubule and neurofilament immunoreactivity in human hairy skin: markers for intraepidermal nerve fibers. Muscle Nerve. 2004;30:310–6.
PubMed
CrossRef
Google Scholar
Albrecht PJ, Hines S, Eisenberg E, Pud D, Finlay DR, Connolly MK, et al. Pathologic alterations of cutaneous innervation and vasculature in affected limbs from patients with complex regional pain syndrome. Pain. 2006;120:244–66.
PubMed
CrossRef
Google Scholar
Uno H, Parker F. Autonomic innervation of the skin in primary erythermalgia. Arch Dermatol. 1983;119:65–71.
CAS
PubMed
CrossRef
Google Scholar
Donadio V, Nolano M, Provitera V, Stancanelli A, Lullo F, Liguori R, et al. Skin sympathetic adrenergic innervation: an immunofluorescence confocal study. Ann Neurol. 2006;59:376–81.
PubMed
CrossRef
Google Scholar
Nolano M, Provitera V, Perretti A, Stancanelli A, Saltalamacchia AM, Donadio V, et al. Ross syndrome: a rare or a misknown disorder of thermoregulation? A skin innervation study on 12 subjects. Brain. 2006;129:2119–31.
CrossRef
PubMed
Google Scholar
Kennedy WR, Wendelschafer-Crabb G, Brelje TC. Innervation and vasculature of human sweat glands: an immunohistochemistry-laser scanning confocal fluorescence microscopy study. J Neurosci. 1994;14:6825–33.
CAS
PubMed
CrossRef
PubMed Central
Google Scholar
Wilder-Smith EP, Chow A. Comparison of a simple method for quantitation of intraepidermal nerve fibres with a standard image analysis method using hypothenar skin. J Neurol. 2006;253:1011–5.
PubMed
CrossRef
Google Scholar
Chien HF, Tseng TJ, Lin WM, Yang CC, Chang YC, Chen RC, et al. Quantitative pathology of cutaneous nerve terminal degeneration in the human skin. Acta Neuropathol (Berl). 2001;102:455–61.
CAS
Google Scholar
Kennedy WR, Wendelschafer-Crabb G, Polydefkis M, McArthur J. Pathology and quantitation of cutaneous nerves. In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy. 4th ed. Philadelphia: Saunders; 2005. p. 869–96.
CrossRef
Google Scholar
Lauria G, Hsieh ST, Johansson O, Kennedy WR, Leger JM, Mellgren SI, et al. European Federation of Neurological Societies/Peripheral Nerve Society Guideline on the use of skin biopsy in the diagnosis of small fiber neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society. Eur J Neurol. 2010;17:903–12, e44–9.
CAS
PubMed
CrossRef
Google Scholar
Ebenezer GJ, Hauer P, Gibbons C, McArthur JC, Polydefkis M. Assessment of epidermal nerve fibers: a new diagnostic and predictive tool for peripheral neuropathies. J Neuropathol Exp Neurol. 2007;66:1059–73.
PubMed
CrossRef
Google Scholar
Goransson LG, Mellgren SI, Lindal S, Omdal R. The effect of age and gender on epidermal nerve fiber density. Neurology. 2004;62:774–7.
CAS
PubMed
CrossRef
Google Scholar
Bakkers M, Merkies IS, Lauria G, Devigili G, Penza P, Lombardi R, et al. Intraepidermal nerve fiber density and its application in sarcoidosis. Neurology. 2009;73:1142–8.
CAS
PubMed
CrossRef
Google Scholar
Burns TM, Smith AG. “Measure twice, cut once”: improving diagnostic accuracy of skin biopsy. Neurology. 2012;79:2164–5.
PubMed
CrossRef
Google Scholar
Seger S, Stritt M, Doppler K, Frank S, Panaite A, Kuntzer T, et al. A semi-automated method to assess intraepidermal nerve fibre density in human skin biopsies. Histopathology. 2016;68:657–65.
PubMed
CrossRef
Google Scholar
Umapathi T, Tan WL, Tan NC, Chan YH. Determinants of epidermal nerve fiber density in normal individuals. Muscle Nerve. 2006;33:742–6.
CAS
PubMed
CrossRef
Google Scholar
Pan CL, Lin YH, Lin WM, Tai TY, Hsieh ST. Degeneration of nociceptive nerve terminals in human peripheral neuropathy. Neuroreport. 2001;12:787–92.
CAS
PubMed
CrossRef
Google Scholar
Nolano M, Biasiotta A, Lombardi R, Provitera V, Stancanelli A, Caporaso G, et al. Epidermal innervation morphometry by immunofluorescence and bright-field microscopy. J Peripher Nerv Syst. 2015;20:387–91.
CAS
PubMed
CrossRef
Google Scholar
Lauria G, Bakkers M, Schmitz C, Lombardi R, Penza P, Devigili G, et al. Intraepidermal nerve fiber density at the distal leg: a worldwide normative reference study. J Peripher Nerv Syst. 2010;15:202–7.
PubMed
CrossRef
Google Scholar
Collongues N, Samama B, Schmidt-Mutter C, Chamard-Witkowski L, Debouverie M, Chanson JB, et al. Quantitative and qualitative normative dataset for intraepidermal nerve fibers using skin biopsy. PLoS One. 2018;13:e0191614.
PubMed
PubMed Central
CrossRef
CAS
Google Scholar
Vlckova-Moravcova E, Bednarik J, Dusek L, Toyka KV, Sommer C. Diagnostic validity of epidermal nerve fiber densities in painful sensory neuropathies. Muscle Nerve. 2008;37:50–60.
PubMed
CrossRef
Google Scholar
Nebuchennykh M, Loseth S, Lindal S, Mellgren SI. The value of skin biopsy with recording of intraepidermal nerve fiber density and quantitative sensory testing in the assessment of small fiber involvement in patients with different causes of polyneuropathy. J Neurol. 2009;256:1067–75.
PubMed
CrossRef
Google Scholar
Engelstad JK, Taylor SW, Witt LV, Hoebing BJ, Herrmann DN, Dyck PJ, et al. Epidermal nerve fibers: confidence intervals and continuous measures with nerve conduction. Neurology. 2012;79:2187–93.
PubMed
PubMed Central
CrossRef
Google Scholar
Donadio V, Incensi A, Giannoccaro MP, Cortelli P, Di Stasi V, Pizza F, et al. Peripheral autonomic neuropathy: diagnostic contribution of skin biopsy. J Neuropathol Exp Neurol. 2012;71:1000–8.
CrossRef
PubMed
Google Scholar
Kennedy WR, Wendelschafer-Crabb G. Utility of skin biopsy in diabetic neuropathy. Semin Neurol. 1996;16:163–71.
CAS
PubMed
CrossRef
Google Scholar
Holland NR, Crawford TO, Hauer P, Cornblath DR, Griffin JW, McArthur JC. Small-fiber sensory neuropathies: clinical course and neuropathology of idiopathic cases. Ann Neurol. 1998;44:47–59.
CAS
PubMed
CrossRef
Google Scholar
Holland NR, Stocks A, Hauer P, Cornblath DR, Griffin JW, McArthur JC. Intraepidermal nerve fiber density in patients with painful sensory neuropathy. Neurology. 1997;48:708–11.
CAS
PubMed
CrossRef
Google Scholar
Lauria G, Holland N, Hauer P, Cornblath DR, Griffin JW, McArthur JC. Epidermal innervation: changes with aging, topographic location, and in sensory neuropathy. J Neurol Sci. 1999;164:172–8.
CAS
PubMed
CrossRef
Google Scholar
Lauria G, Sghirlanzoni A, Lombardi R, Pareyson D. Epidermal nerve fiber density in sensory ganglionopathies: clinical and neurophysiologic correlations. Muscle Nerve. 2001;24:1034–9.
CAS
PubMed
CrossRef
Google Scholar
Herrmann DN, Griffin JW, Hauer P, Cornblath DR, McArthur JC. Epidermal nerve fiber density and sural nerve morphometry in peripheral neuropathies. Neurology. 1999;53:1634–40.
CAS
PubMed
CrossRef
Google Scholar
Periquet MI, Novak V, Collins MP, Nagaraja HN, Erdem S, Nash SM, et al. Painful sensory neuropathy: prospective evaluation using skin biopsy. Neurology. 1999;53:1641–7.
CAS
PubMed
CrossRef
Google Scholar
Scott LJ, Griffin JW, Luciano C, Barton NW, Banerjee T, Crawford T, et al. Quantitative analysis of epidermal innervation in Fabry disease. Neurology. 1999;52:1249–54.
CAS
PubMed
CrossRef
Google Scholar
Wakamoto H, Hirai A, Manabe K, Hayashi M. Idiopathic small-fiber sensory neuropathy in childhood: a diagnosis based on objective findings on punch skin biopsy specimens. J Pediatr. 1999;135:257–60.
CAS
PubMed
CrossRef
Google Scholar
Hsieh ST, Chiang HY, Lin WM. Pathology of nerve terminal degeneration in the skin. J Neuropathol Exp Neurol. 2000;59:297–307.
CAS
PubMed
CrossRef
Google Scholar
Polydefkis M, Allen RP, Hauer P, Earley CJ, Griffin JW, McArthur JC. Subclinical sensory neuropathy in late-onset restless legs syndrome. Neurology. 2000;55:1115–21.
CAS
PubMed
CrossRef
Google Scholar
Polydefkis M, Yiannoutsos CT, Cohen BA, Hollander H, Schifitto G, Clifford DB, et al. Reduced intraepidermal nerve fiber density in HIV-associated sensory neuropathy. Neurology. 2002;58:115–9.
CAS
PubMed
CrossRef
Google Scholar
Verze L, Viglietti-Panzica C, Plumari L, Calcagni M, Stella M, Schrama LH, et al. Cutaneous innervation in hereditary sensory and autonomic neuropathy type IV. Neurology. 2000;55:126–8.
CAS
PubMed
CrossRef
Google Scholar
Hoitsma E, Marziniak M, Faber CG, Reulen JP, Sommer C, De Baets M, et al. Small fibre neuropathy in sarcoidosis. Lancet. 2002;359:2085–6.
CAS
PubMed
CrossRef
Google Scholar
Boruchow SA, Gibbons CH. Utility of skin biopsy in management of small fiber neuropathy. Muscle Nerve. 2013;48:877–82.
PubMed
CrossRef
Google Scholar
Devigili G, Tugnoli V, Penza P, Camozzi F, Lombardi R, Melli G, et al. The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology. Brain. 2008;131:1912–25.
PubMed
PubMed Central
CrossRef
Google Scholar
Abuzinadah AR, Kluding P, Wright D, D’Silva L, Ryals J, Hendry B, et al. Less is more in diabetic neuropathy diagnosis: comparison of quantitative sudomotor axon reflex and skin biopsy. J Clin Neuromuscul Dis. 2017;19:5–11.
PubMed
CrossRef
Google Scholar
Harrer JU, Uceyler N, Doppler K, Fischer TZ, Dib-Hajj SD, Waxman SG, et al. Neuropathic pain in two-generation twins carrying the sodium channel Nav1.7 functional variant R1150W. Pain. 2014;155:2199–203.
CAS
PubMed
CrossRef
Google Scholar
Üçeyler N, Ganendiran S, Kramer D, Sommer C. Characterization of pain in Fabry disease. Clin J Pain. 2014;30:915–20.
PubMed
CrossRef
Google Scholar
Üçeyler N, He L, Schönfeld D, Kahn AK, Reiners K, Hilz MJ, et al. Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy. J Peripher Nerv Syst. 2011;16:304–14.
PubMed
CrossRef
Google Scholar
Vlckova-Moravcova E, Bednarik J, Belobradkova J, Sommer C. Small-fibre involvement in diabetic patients with neuropathic foot pain. Diabet Med. 2008;25:692–9.
CAS
PubMed
CrossRef
Google Scholar
Sorensen L, Molyneaux L, Yue DK. The relationship among pain, sensory loss, and small nerve fibers in diabetes. Diabetes Care. 2006;29:883–7.
PubMed
CrossRef
Google Scholar
Günes HN, Bekircan-Kurt CE, Tan E, Erdem-Ozdamar S. The histopathological evaluation of small fiber neuropathy in patients with vitamin B12 deficiency. Acta Neurol Belg. 2018;118:405–10.
PubMed
CrossRef
Google Scholar
Üçeyler N, Vollert J, Broll B, Riediger N, Langjahr M, Saffer N, et al. Sensory profiles and skin innervation of patients with painful and painless neuropathies. Pain. 2018;159:1867–76.
Google Scholar
Provitera V, Gibbons CH, Wendelschafer-Crabb G, Donadio V, Vitale DF, Loavenbruck A, et al. The role of skin biopsy in differentiating small-fiber neuropathy from ganglionopathy. Eur J Neurol. 2018;25:848–53.
CAS
PubMed
CrossRef
Google Scholar
Cazzato D, Lauria G. Small fibre neuropathy. Curr Opin Neurol. 2017;30:490–9.
CAS
PubMed
CrossRef
Google Scholar
Waxman SG, Merkies IS, Gerrits MM, Dib-Hajj SD, Lauria G, Cox JJ, et al. Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use. Lancet Neurol. 2014;13:1152–60.
CAS
PubMed
CrossRef
Google Scholar
Herrmann DN, O’Connor AB, Schwid SR, Da Y, Goodman AD, Rafferty J, et al. Broadening the spectrum of controls for skin biopsy in painful neuropathies. Muscle Nerve. 2010;42:436–8.
PubMed
CrossRef
Google Scholar
Ringkamp M, Raja SN, Campbell A, Meyer RA. Peripheral mechanisms of cutaneous nociception. In: McMahon SB, Koltzenburg M, Tracey I, Turk DC, editors. Wall and Melzack’s textbook of pain. Philadelphia: Elsevier; 2013. p. 1–30.
Google Scholar
Taylor AM, Peleshok JC, Ribeiro-da-Silva A. Distribution of P2X(3)-immunoreactive fibers in hairy and glabrous skin of the rat. J Comp Neurol. 2009;514:555–66.
CAS
PubMed
CrossRef
Google Scholar
Nolano M, Provitera V, Caporaso G, Stancanelli A, Leandri M, Biasiotta A, et al. Cutaneous innervation of the human face as assessed by skin biopsy. J Anat. 2013;222:161–9.
PubMed
CrossRef
Google Scholar
Bechakra M, Schuttenhelm BN, Pederzani T, van Doorn PA, de Zeeuw CI, Jongen JLM. The reduction of intraepidermal P2X3 nerve fiber density correlates with behavioral hyperalgesia in a rat model of nerve injury-induced pain. J Comp Neurol. 2017;525:3757–68.
CAS
PubMed
CrossRef
Google Scholar
Schuttenhelm BN, Duraku LS, Dijkstra JF, Walbeehm ET, Holstege JC. Differential changes in the peptidergic and the non-peptidergic skin innervation in rat models for inflammation, dry skin itch, and dermatitis. J Invest Dermatol. 2015;135:2049–57.
PubMed
CrossRef
CAS
Google Scholar
McCoy ES, Taylor-Blake B, Street SE, Pribisko AL, Zheng J, Zylka MJ. Peptidergic CGRPalpha primary sensory neurons encode heat and itch and tonically suppress sensitivity to cold. Neuron. 2013;78:138–51.
CAS
PubMed
PubMed Central
CrossRef
Google Scholar
Hsieh YL, Lin CL, Chiang H, Fu YS, Lue JH, Hsieh ST. Role of peptidergic nerve terminals in the skin: reversal of thermal sensation by calcitonin gene-related peptide in TRPV1-depleted neuropathy. PLoS One. 2012;7:e50805.
CAS
PubMed
PubMed Central
CrossRef
Google Scholar
Dubin AE, Patapoutian A. Nociceptors: the sensors of the pain pathway. J Clin Invest. 2010;120:3760–72.
CAS
PubMed
PubMed Central
CrossRef
Google Scholar
da Silva Serra I, Husson Z, Bartlett JD, Smith ES. Characterization of cutaneous and articular sensory neurons. Mol Pain. 2016;12. https://doi.org/10.1177/1744806916636387.
CrossRef
CAS
Google Scholar
Wooten M, Weng HJ, Hartke TV, Borzan J, Klein AH, Turnquist B, et al. Three functionally distinct classes of C-fibre nociceptors in primates. Nat Commun. 2014;5:4122.
CAS
PubMed
CrossRef
Google Scholar
Lauria G, Morbin M, Lombardi R, Capobianco R, Camozzi F, Pareyson D, et al. Expression of capsaicin receptor immunoreactivity in human peripheral nervous system and in painful neuropathies. J Peripher Nerv Syst. 2006;11:262–71.
CAS
PubMed
CrossRef
Google Scholar
Axelsson HE, Minde JK, Sonesson A, Toolanen G, Hogestatt ED, Zygmunt PM. Transient receptor potential vanilloid 1, vanilloid 2 and melastatin 8 immunoreactive nerve fibers in human skin from individuals with and without Norrbottnian congenital insensitivity to pain. Neuroscience. 2009;162:1322–32.
CAS
PubMed
CrossRef
Google Scholar
Wilder-Smith EP, Ong WY, Guo Y, Chow AW. Epidermal transient receptor potential vanilloid 1 in idiopathic small nerve fibre disease, diabetic neuropathy and healthy human subjects. Histopathology. 2007;51:674–80.
CAS
PubMed
PubMed Central
CrossRef
Google Scholar
Han SB, Kim H, Cho SH, Lee JD, Chung JH, Kim HS. Transient Receptor Potential Vanilloid-1 in Epidermal Keratinocytes May Contribute to Acute Pain in Herpes Zoster. Acta Derm Venereol. 2016;96:319–22.
CAS
PubMed
CrossRef
Google Scholar
Chao CC, Tseng MT, Lin YJ, Yang WS, Hsieh SC, Lin YH, et al. Pathophysiology of neuropathic pain in type 2 diabetes: skin denervation and contact heat-evoked potentials. Diabetes Care. 2010;33:2654–9.
PubMed
PubMed Central
CrossRef
Google Scholar
Tseng MT, Hsieh SC, Shun CT, Lee KL, Pan CL, Lin WM, et al. Skin denervation and cutaneous vasculitis in systemic lupus erythematosus. Brain. 2006;129:977–85.
CrossRef
PubMed
Google Scholar
Casanova-Molla J, Morales M, Garrabou G, Sola-Valls N, Soriano A, Calvo M, et al. Mitochondrial loss indicates early axonal damage in small fiber neuropathies. J Peripher Nerv Syst. 2012;17:147–57.
CAS
PubMed
CrossRef
Google Scholar
Sommer C, Lindenlaub T, Zillikens D, Toyka KV, Naumann M. Selective loss of cholinergic sudomotor fibers causes anhidrosis in Ross syndrome. Ann Neurol. 2002;52:247–50.
PubMed
CrossRef
Google Scholar
Lauria G, Cazzato D, Porretta-Serapiglia C, Casanova-Molla J, Taiana M, Penza P, et al. Morphometry of dermal nerve fibers in human skin. Neurology. 2011;77:242–9.
CAS
PubMed
CrossRef
Google Scholar
Karlsson P, Porretta-Serapiglia C, Lombardi R, Jensen TS, Lauria G. Dermal innervation in healthy subjects and small fiber neuropathy patients: a stereological reappraisal. J Peripher Nerv Syst. 2013;18:48–53.
PubMed
CrossRef
Google Scholar
Doppler K, Frank F, Koschker AC, Reiners K, Sommer C. Nodes of Ranvier in skin biopsies of patients with diabetes mellitus. J Peripher Nerv Syst. 2017;22:182–90.
CAS
PubMed
CrossRef
Google Scholar
Doppler K, Werner C, Henneges C, Sommer C. Analysis of myelinated fibers in human skin biopsies of patients with neuropathies. J Neurol. 2012;259:1879–87.
PubMed
CrossRef
Google Scholar
Gibbons CH, Illigens BM, Wang N, Freeman R. Quantification of sweat gland innervation: a clinical-pathologic correlation. Neurology. 2009;72:1479–86.
PubMed
PubMed Central
CrossRef
Google Scholar
Dabby R, Vaknine H, Gilad R, Djaldetti R, Sadeh M. Evaluation of cutaneous autonomic innervation in idiopathic sensory small-fiber neuropathy. J Peripher Nerv Syst. 2007;12:98–101.
PubMed
CrossRef
Google Scholar
Kokotis P, Uceyler N, Werner C, Tsivgoulis G, Papanikola N, Katsanos AH, et al. Quantification of sweat gland innervation in patients with Fabry disease: a case-control study. J Neurol Sci. 2018;390:135–8.
PubMed
CrossRef
Google Scholar
Pare M, Smith AM, Rice FL. Distribution and terminal arborizations of cutaneous mechanoreceptors in the glabrous finger pads of the monkey. J Comp Neurol. 2002;445:347–59.
PubMed
CrossRef
Google Scholar
Rice FL, Albrecht PJ. Cutaneous mechanisms of tactile perception: morphological and chemical organization of the innervation to the skin. In: Basbaum A, Kaneko A, Shepherd GM, Westheimer G, editors. The senses. San Diego: Academic Press; 2008. p. 1–32.
Google Scholar
Rice FL, Rasmusson DD. Innervation of the digit on the forepaw of the raccoon. J Comp Neurol. 2000;417:467–90.
CAS
PubMed
CrossRef
Google Scholar
Albrecht PJ, Hou Q, Argoff CE, Storey JR, Wymer JP, Rice FL. Excessive peptidergic sensory innervation of cutaneous arteriole-venule shunts (AVS) in the palmar glabrous skin of fibromyalgia patients: implications for widespread deep tissue pain and fatigue. Pain Med. 2013;14:895–915.
PubMed
CrossRef
Google Scholar
Üçeyler N, Devigili G, Toyka KV, Sommer C. Skin biopsy as an additional diagnostic tool in non-systemic vasculitic neuropathy. Acta Neuropathol. 2010;120:109–16.
PubMed
CrossRef
Google Scholar
Üçeyler N, Braunsdorf S, Kunze E, Riediger N, Scheytt S, Divisova S, et al. Cellular infiltrates in skin and sural nerve of patients with polyneuropathies. Muscle Nerve. 2017;55:884–93.
PubMed
CrossRef
CAS
Google Scholar
Casanova-Molla J, Morales M, Planas-Rigol E, Bosch A, Calvo M, Grau-Junyent JM, et al. Epidermal Langerhans cells in small fiber neuropathies. Pain. 2012;153:982–9.
PubMed
CrossRef
Google Scholar
Plante-Bordeneuve V. Transthyretin familial amyloid polyneuropathy: an update. J Neurol. 2018;265:976–83.
CAS
PubMed
CrossRef
Google Scholar
Adams D, Gonzalez-Duarte A, O’Riordan WD, Yang CC, Ueda M, Kristen AV, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med. 2018;379:11–21.
CAS
CrossRef
PubMed
Google Scholar
Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, et al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med. 2018;379:22–31.
CAS
CrossRef
PubMed
Google Scholar
Üçeyler N, Schröter N, Kafke W, Kramer D, Wanner C, Weidemann F, et al. Skin globotriaosylceramide 3 load is increased in men with advanced fabry disease. PLoS One. 2016;11:e0166484.
PubMed
PubMed Central
CrossRef
CAS
Google Scholar
Üçeyler N, Böttger J, Henkel L, Langjahr M, Mayer C, Nordbeck P, et al. Detection of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease. J Intern Med. 2018;284:427–38.
PubMed
CrossRef
CAS
Google Scholar
Nolano M, Provitera V, Donadio V, Caporaso G, Stancanelli A, Califano F, et al. Cutaneous sensory and autonomic denervation in CADASIL. Neurology. 2016;86:1039–44.
PubMed
CrossRef
Google Scholar
Doppler K, Jentschke HM, Schulmeyer L, Vadasz D, Janzen A, Luster M, et al. Dermal phospho-alpha-synuclein deposits confirm REM sleep behaviour disorder as prodromal Parkinson’s disease. Acta Neuropathol. 2017;133:535–45.
CAS
PubMed
PubMed Central
CrossRef
Google Scholar
Schrempf W, Katona I, Dogan I, Felbert VV, Wienecke M, Heller J, et al. Reduced intraepidermal nerve fiber density in patients with REM sleep behavior disorder. Parkinsonism Relat Disord. 2016;29:10–6.
PubMed
CrossRef
Google Scholar
Levine TD. Small fiber neuropathy: disease classification beyond pain and burning. J Cent Nerv Syst Dis. 2018;10:1179573518771703.
PubMed
PubMed Central
CrossRef
Google Scholar