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2020 8
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Page 1
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium; Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058 Free PMC article.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M. Senderek J, et al. Neurology. 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3. Neurology. 2020. PMID: 33144514 Free PMC article.
Genetic pain loss disorders.
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Lischka A, et al. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. Nat Rev Dis Primers. 2022. PMID: 35710757 Review.
Reduction in 99mTc-DPD myocardial uptake with therapy of ATTR cardiomyopathy.
Rettl R, Calabretta R, Duca F, Binder C, Kronberger C, Willixhofer R, Poledniczek M, Donà C, Nitsche C, Beitzke D, Loewe C, Auer-Grumbach M, Bonderman D, Kastl S, Hengstenberg C, Badr Eslam R, Kastner J, Bergler-Klein J, Hacker M, Kammerlander A. Rettl R, et al. Amyloid. 2024 Mar;31(1):42-51. doi: 10.1080/13506129.2023.2247136. Epub 2023 Aug 20. Amyloid. 2024. PMID: 37599395
Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.
Auer-Grumbach M, Rettl R, Ablasser K, Agis H, Beetz C, Duca F, Gattermeier M, Glaser F, Hacker M, Kain R, Kaufmann B, Kovacs GG, Lampl C, Ljevakovic N, Nagele J, Pölzl G, Quasthoff S, Raimann B, Rauschka H, Reiter C, Skrahina V, Schuhfried O, Sunder-Plassmann R, Verheyen ND, Wanschitz J, Weber T, Windhager R, Wurm R, Zimprich F, Löscher WN, Bonderman D. Auer-Grumbach M, et al. J Clin Med. 2020 Jul 14;9(7):2234. doi: 10.3390/jcm9072234. J Clin Med. 2020. PMID: 32674397 Free PMC article.
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature.
Dohrn MF, Auer-Grumbach M, Baron R, Birklein F, Escolano-Lozano F, Geber C, Grether N, Hagenacker T, Hund E, Sachau J, Schilling M, Schmidt J, Schulte-Mattler W, Sommer C, Weiler M, Wunderlich G, Hahn K. Dohrn MF, et al. J Neurol. 2021 Oct;268(10):3610-3625. doi: 10.1007/s00415-020-09962-6. Epub 2020 Jun 4. J Neurol. 2021. PMID: 32500375 Free PMC article.
Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement.
Bonderman D, Pölzl G, Ablasser K, Agis H, Aschauer S, Auer-Grumbach M, Binder C, Dörler J, Duca F, Ebner C, Hacker M, Kain R, Kammerlander A, Koschutnik M, Kroiss AS, Mayr A, Nitsche C, Rainer PP, Reiter-Malmqvist S, Schneider M, Schwarz R, Verheyen N, Weber T, Zaruba MM, Badr Eslam R, Hülsmann M, Mascherbauer J. Bonderman D, et al. Wien Klin Wochenschr. 2020 Dec;132(23-24):742-761. doi: 10.1007/s00508-020-01781-z. Epub 2020 Dec 3. Wien Klin Wochenschr. 2020. PMID: 33270160 Free PMC article.
ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable.
Brannagan TH 3rd, Auer-Grumbach M, Berk JL, Briani C, Bril V, Coelho T, Damy T, Dispenzieri A, Drachman BM, Fine N, Gaggin HK, Gertz M, Gillmore JD, Gonzalez E, Hanna M, Hurwitz DR, Khella SL, Maurer MS, Nativi-Nicolau J, Olugemo K, Quintana LF, Rosen AM, Schmidt HH, Shehata J, Waddington-Cruz M, Whelan C, Ruberg FL. Brannagan TH 3rd, et al. Orphanet J Rare Dis. 2021 May 6;16(1):204. doi: 10.1186/s13023-021-01834-0. Orphanet J Rare Dis. 2021. PMID: 33957949 Free PMC article.
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.
Safka Brozkova D, Stojkovic T, Haberlová J, Mazanec R, Windhager R, Fernandes Rosenegger P, Hacker S, Züchner S, Kochański A, Leonard-Louis S, Francou B, Latour P, Senderek J, Seeman P, Auer-Grumbach M. Safka Brozkova D, et al. Eur J Neurol. 2020 Dec;27(12):2568-2574. doi: 10.1111/ene.14463. Epub 2020 Sep 5. Eur J Neurol. 2020. PMID: 32757322
15 results