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Items: 1 to 50 of 96

1.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R.

Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102.

PMID:
31135052
2.

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.

Tey S, Shahrizaila N, Drew AP, Samulong S, Goh KJ, Battaloglu E, Atkinson D, Parman Y, Jordanova A, Chung KW, Choi BO, Li YC, Auer-Grumbach M, Nicholson GA, Kennerson ML, Ahmad-Annuar A.

Neurogenetics. 2019 Aug;20(3):117-127. doi: 10.1007/s10048-019-00576-3. Epub 2019 Apr 22.

PMID:
31011849
3.

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.

Wu J, Ma S, Sandhoff R, Ming Y, Hotz-Wagenblatt A, Timmerman V, Bonello-Palot N, Schlotter-Weigel B, Auer-Grumbach M, Seeman P, Löscher WN, Reindl M, Weiss F, Mah E, Weisshaar N, Madi A, Mohr K, Schlimbach T, Velasco Cárdenas RM, Koeppel J, Grünschläger F, Müller L, Baumeister M, Brügger B, Schmitt M, Wabnitz G, Samstag Y, Cui G.

Immunity. 2019 May 21;50(5):1218-1231.e5. doi: 10.1016/j.immuni.2019.03.005. Epub 2019 Apr 2.

PMID:
30952607
4.

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. doi: 10.1080/15548627.2019.1569930. Epub 2019 Jan 31.

5.

Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts.

Jahic A, Bock A, Duca F, Bonderman D, Mascherbauer J, Windhager R, Auer-Grumbach M, Beetz C.

Mol Cell Probes. 2018 Oct;41:61-63. doi: 10.1016/j.mcp.2018.08.005. Epub 2018 Aug 21.

PMID:
30142390
6.

Hereditary Neuropathies: Update 2017.

Rudnik-Schöneborn S, Auer-Grumbach M, Senderek J.

Neuropediatrics. 2017 Aug;48(4):282-293. doi: 10.1055/s-0037-1603518. Epub 2017 Jun 8. Review. No abstract available.

PMID:
28597455
7.

Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.

Geuens T, De Winter V, Rajan N, Achsel T, Mateiu L, Almeida-Souza L, Asselbergh B, Bouhy D, Auer-Grumbach M, Bagni C, Timmerman V.

Acta Neuropathol Commun. 2017 Jan 11;5(1):5. doi: 10.1186/s40478-016-0407-3.

8.

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Evilä A, Palmio J, Vihola A, Savarese M, Tasca G, Penttilä S, Lehtinen S, Jonson PH, De Bleecker J, Rainer P, Auer-Grumbach M, Pouget J, Salort-Campana E, Vilchez JJ, Muelas N, Olive M, Hackman P, Udd B.

Mol Neurobiol. 2017 Nov;54(9):7212-7223. doi: 10.1007/s12035-016-0242-3. Epub 2016 Oct 29.

PMID:
27796757
9.

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.

Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J.

Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008.

10.

Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.

Kurth I, Baumgartner M, Schabhüttl M, Tomni C, Windhager R, Strom TM, Wieland T, Gremel K, Auer-Grumbach M.

Am J Med Genet B Neuropsychiatr Genet. 2016 Sep;171(6):875-8. doi: 10.1002/ajmg.b.32458. Epub 2016 May 17.

PMID:
27184211
11.

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.

Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, Sweeney MG, Holton JL, Hanna M, Dallman JE, Auer-Grumbach M, Reilly MM, Zuchner S.

Am J Hum Genet. 2016 Apr 7;98(4):597-614. doi: 10.1016/j.ajhg.2016.02.022. Epub 2016 Mar 31.

12.

Diabetic neuropathy increases stimulation threshold during popliteal sciatic nerve block.

Heschl S, Hallmann B, Zilke T, Gemes G, Schoerghuber M, Auer-Grumbach M, Quehenberger F, Lirk P, Hogan Q, Rigaud M.

Br J Anaesth. 2016 Apr;116(4):538-45. doi: 10.1093/bja/aew027.

13.

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA.

Ann Neurol. 2016 Mar;79(3):419-27. doi: 10.1002/ana.24575. Epub 2016 Jan 13.

14.

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J.

Nat Genet. 2015 Aug;47(8):962. doi: 10.1038/ng0815-962b. No abstract available.

PMID:
26220135
15.

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

Strickland AV, Schabhüttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Züchner S, Schule R, Shy ME, Auer-Grumbach M.

J Neurol. 2015 Sep;262(9):2124-34. doi: 10.1007/s00415-015-7727-2. Epub 2015 Jun 24.

16.

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzales MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN.

Brain. 2015 Nov;138(Pt 11):e392. doi: 10.1093/brain/awv160. Epub 2015 Jun 10. No abstract available.

17.

Transcriptional regulator PRDM12 is essential for human pain perception.

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J.

Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25. Erratum in: Nat Genet. 2015 Aug;47(8):962.

PMID:
26005867
18.

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.

Roos A, Weis J, Korinthenberg R, Fehrenbach H, Häusler M, Züchner S, Mache C, Hubmann H, Auer-Grumbach M, Senderek J.

J Peripher Nerv Syst. 2015 Mar;20(1):52-9. doi: 10.1111/jns.12106.

PMID:
25676889
19.

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN.

Brain. 2015 Feb;138(Pt 2):293-310. doi: 10.1093/brain/awu356. Epub 2014 Dec 14.

20.

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schöneborn S, Röhr D, Halfter H, Young P, Senderek J.

Neurology. 2014 Nov 4;83(19):1726-32. doi: 10.1212/WNL.0000000000000966. Epub 2014 Oct 1.

PMID:
25274842
21.

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Liu YT, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields KG, Reilly MM, Houlden H.

Neurology. 2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9.

22.

A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.

Fischer D, Schabhüttl M, Wieland T, Windhager R, Strom TM, Auer-Grumbach M.

Brain. 2014 Jul;137(Pt 7):e286. doi: 10.1093/brain/awu091. Epub 2014 Apr 15. No abstract available.

PMID:
24736309
23.

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

Schabhüttl M, Wieland T, Senderek J, Baets J, Timmerman V, De Jonghe P, Reilly MM, Stieglbauer K, Laich E, Windhager R, Erwa W, Trajanoski S, Strom TM, Auer-Grumbach M.

J Neurol. 2014 May;261(5):970-82. doi: 10.1007/s00415-014-7289-8. Epub 2014 Mar 15.

PMID:
24627108
24.

Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila.

Janssens K, Goethals S, Atkinson D, Ermanoska B, Fransen E, Jordanova A, Auer-Grumbach M, Asselbergh B, Timmerman V.

Neurobiol Dis. 2014 May;65:211-9. doi: 10.1016/j.nbd.2014.01.021. Epub 2014 Feb 9.

PMID:
24521780
25.

Hereditary sensory and autonomic neuropathies.

Auer-Grumbach M.

Handb Clin Neurol. 2013;115:893-906. doi: 10.1016/B978-0-444-52902-2.00050-3. Review.

PMID:
23931820
26.

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K, Muntoni F, North KN, Reilly MM.

Am J Hum Genet. 2013 Jun 6;92(6):965-73. doi: 10.1016/j.ajhg.2013.04.018. Epub 2013 May 9.

27.

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.

Auer-Grumbach M, Bode H, Pieber TR, Schabhüttl M, Fischer D, Seidl R, Graf E, Wieland T, Schuh R, Vacariu G, Grill F, Timmerman V, Strom TM, Hornemann T.

Eur J Med Genet. 2013 May;56(5):266-9. doi: 10.1016/j.ejmg.2013.02.002. Epub 2013 Feb 27.

28.

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.

Rodriguez PQ, Lohkamp B, Celsi G, Mache CJ, Auer-Grumbach M, Wernerson A, Hamajima N, Tryggvason K, Patrakka J.

Pediatr Nephrol. 2013 Feb;28(2):339-43. doi: 10.1007/s00467-012-2299-1. Epub 2012 Sep 11.

PMID:
22961558
29.

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A.

Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9.

PMID:
22961002
30.

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

Beetz C, Pieber TR, Hertel N, Schabhüttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M.

Am J Hum Genet. 2012 Jul 13;91(1):139-45. doi: 10.1016/j.ajhg.2012.05.007. Epub 2012 Jun 14.

31.

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G.

J Neurol Sci. 2012 Jul 15;318(1-2):1-18. doi: 10.1016/j.jns.2012.03.025. Epub 2012 May 1. Review.

PMID:
22554690
32.

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P.

Neurogenetics. 2012 Aug;13(3):215-27. doi: 10.1007/s10048-012-0329-6. Epub 2012 May 3.

PMID:
22552817
33.

TRPV4 mutations in children with congenital distal spinal muscular atrophy.

Fiorillo C, Moro F, Brisca G, Astrea G, Nesti C, Bálint Z, Olschewski A, Meschini MC, Guelly C, Auer-Grumbach M, Battini R, Pedemonte M, Romano A, Menchise V, Biancheri R, Santorelli FM, Bruno C.

Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25.

PMID:
22526352
34.

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.

Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F.

Hum Mutat. 2012 Jun;33(6):981-8. doi: 10.1002/humu.22056. Epub 2012 Apr 4. Erratum in: Hum Mutat. 2012 Aug;33(8):1310.

PMID:
22473935
35.

The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.

Leonardis L, Auer-Grumbach M, Papić L, Zidar J.

Eur J Neurol. 2012 Jul;19(7):992-8. doi: 10.1111/j.1468-1331.2012.03665.x. Epub 2012 Feb 16.

PMID:
22340599
36.

MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives.

Varga RE, Mumtaz R, Jahic A, Rudenskaya GE, Sánchez-Ferrero E, Auer-Grumbach M, Hübner CA, Beetz C.

Anal Biochem. 2012 Feb 15;421(2):799-801. doi: 10.1016/j.ab.2011.12.002. Epub 2011 Dec 9.

PMID:
22222296
37.

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.

Fischer C, Trajanoski S, Papić L, Windpassinger C, Bernert G, Freilinger M, Schabhüttl M, Arslan-Kirchner M, Javaher-Haghighi P, Plecko B, Senderek J, Rauscher C, Löscher WN, Pieber TR, Janecke AR, Auer-Grumbach M.

J Neurol. 2012 Mar;259(3):515-23. doi: 10.1007/s00415-011-6213-8. Epub 2011 Sep 4.

38.

Genetic spectrum of hereditary neuropathies with onset in the first year of life.

Baets J, Deconinck T, De Vriendt E, Zimoń M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernert G, Dinopoulos A, Auer-Grumbach M, Sallinen SL, Fabrizi GM, Pauly F, Van den Bergh P, Bilir B, Battaloglu E, Madrid RE, Kabzińska D, Kochanski A, Topaloglu H, Miller G, Jordanova A, Timmerman V, De Jonghe P.

Brain. 2011 Sep;134(Pt 9):2664-76. doi: 10.1093/brain/awr184. Epub 2011 Aug 11.

39.

Motor neuron, nerve, and neuromuscular junction disease.

Finsterer J, Papić L, Auer-Grumbach M.

Curr Opin Neurol. 2011 Oct;24(5):469-74. doi: 10.1097/WCO.0b013e32834a9448. Review.

PMID:
21825986
40.

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.

Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, Hausmanowa-Petrusewicz I, Niemann A, Kochański A, De Jonghe P, Jordanova A.

Neurology. 2011 Aug 9;77(6):540-8. doi: 10.1212/WNL.0b013e318228fc70. Epub 2011 Jul 13.

41.

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.

Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, Asselbergh B, Van Hoof K, Sticht H, Lévy N, Timmerman V, Hornemann T, Janssens K.

Hum Mutat. 2011 Jun;32(6):E2211-25. doi: 10.1002/humu.21481. Epub 2011 Feb 24.

PMID:
21618344
42.

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

Auer-Grumbach M, Weger M, Fink-Puches R, Papić L, Fröhlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhüttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C.

Brain. 2011 Jun;134(Pt 6):1839-52. doi: 10.1093/brain/awr076. Epub 2011 May 15.

43.

A role for Rab7 in the movement of secretory granules in cytotoxic T lymphocytes.

Daniele T, Hackmann Y, Ritter AT, Wenham M, Booth S, Bossi G, Schintler M, Auer-Grumbach M, Griffiths GM.

Traffic. 2011 Jul;12(7):902-11. doi: 10.1111/j.1600-0854.2011.01194.x. Epub 2011 Apr 21.

44.

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

Guelly C, Zhu PP, Leonardis L, Papić L, Zidar J, Schabhüttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Fröhlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M.

Am J Hum Genet. 2011 Jan 7;88(1):99-105. doi: 10.1016/j.ajhg.2010.12.003. Epub 2010 Dec 30.

45.

SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.

Papić L, Fischer D, Trajanoski S, Höftberger R, Fischer C, Ströbel T, Schmidt WM, Bittner RE, Schabhüttl M, Gruber K, Pieber TR, Janecke AR, Auer-Grumbach M.

Eur J Med Genet. 2011 May-Jun;54(3):214-9. doi: 10.1016/j.ejmg.2010.12.003. Epub 2010 Dec 21.

46.

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Löscher W, Vondráček P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V.

Am J Hum Genet. 2010 Oct 8;87(4):513-22. doi: 10.1016/j.ajhg.2010.09.010.

47.

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

Zimoń M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD.

Brain. 2010 Jun;133(Pt 6):1798-809. doi: 10.1093/brain/awq109. Epub 2010 May 11.

48.

Multi-system neurological disease is common in patients with OPA1 mutations.

Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF.

Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15.

49.

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, Strohmaier H, Lochmüller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C.

Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27.

50.

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.

Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, Martin-Hardy P, Sibon I, Sole G, Orignac I, Mhiri C, Coutinho P, Durr A, Brice A, Stevanin G.

Neurology. 2009 Oct 6;73(14):1111-9. doi: 10.1212/WNL.0b013e3181bacf59.

PMID:
19805727

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