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Items: 1 to 50 of 102

1.

Myositis as a neuromuscular complication of immune checkpoint inhibitors.

Vermeulen L, Depuydt CE, Weckx P, Bechter O, Van Damme P, Thal DR, Claeys KG.

Acta Neurol Belg. 2020 Jan 29. doi: 10.1007/s13760-020-01282-w. [Epub ahead of print]

PMID:
31993961
2.

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.

Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC Jr, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R.

Orphanet J Rare Dis. 2020 Jan 13;15(1):11. doi: 10.1186/s13023-019-1291-2.

3.

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.

Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C.

Acta Neuropathol. 2020 Jan 3. doi: 10.1007/s00401-019-02117-6. [Epub ahead of print]

PMID:
31897643
4.

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST.

Hum Mutat. 2019 Oct 29. doi: 10.1002/humu.23938. [Epub ahead of print]

PMID:
31660661
5.

Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.

Brenner D, Rosenbohm A, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET .

Brain. 2019 Dec 1;142(12):e67. doi: 10.1093/brain/awz306. No abstract available.

PMID:
31612906
6.

Congenital myopathies: an update.

Claeys KG.

Dev Med Child Neurol. 2020 Mar;62(3):297-302. doi: 10.1111/dmcn.14365. Epub 2019 Oct 2. Review.

PMID:
31578728
7.

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.

Kulessa M, Weyer-Menkhoff I, Viergutz L, Kornblum C, Claeys KG, Schneider I, Plöckinger U, Young P, Boentert M, Vielhaber S, Mawrin C, Bergmann M, Weis J, Ziagaki A, Stenzel W, Deschauer M, Nolte D, Hahn A, Schoser B, Schänzer A.

Neuropathol Appl Neurobiol. 2019 Sep 23. doi: 10.1111/nan.12580. [Epub ahead of print]

PMID:
31545528
8.

Serum neurofilament heavy chains as early marker of motor neuron degeneration.

De Schaepdryver M, Goossens J, De Meyer S, Jeromin A, Masrori P, Brix B, Claeys KG, Schaeverbeke J, Adamczuk K, Vandenberghe R, Van Damme P, Poesen K.

Ann Clin Transl Neurol. 2019 Oct;6(10):1971-1979. doi: 10.1002/acn3.50890. Epub 2019 Sep 13.

9.

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.

Ross JA, Levy Y, Ripolone M, Kolb JS, Turmaine M, Holt M, Lindqvist J, Claeys KG, Weis J, Monforte M, Tasca G, Moggio M, Figeac N, Zammit PS, Jungbluth H, Fiorillo C, Vissing J, Witting N, Granzier H, Zanoteli E, Hardeman EC, Wallgren-Pettersson C, Ochala J.

Acta Neuropathol. 2019 Sep;138(3):477-495. doi: 10.1007/s00401-019-02034-8. Epub 2019 Jun 19.

10.

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening.

Brison N, Storms J, Villela D, Claeys KG, Dehaspe L, de Ravel T, De Waele L, Goemans N, Legius E, Peeters H, Van Esch H, Race V, Robert Vermeesch J, Devriendt K, Van Den Bogaert K.

Genet Med. 2019 Dec;21(12):2774-2780. doi: 10.1038/s41436-019-0564-4. Epub 2019 Jun 14.

PMID:
31197268
11.

Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?

Gille B, De Schaepdryver M, Dedeene L, Goossens J, Claeys KG, Van Den Bosch L, Tournoy J, Van Damme P, Poesen K.

J Neurol Neurosurg Psychiatry. 2019 Dec;90(12):1338-1346. doi: 10.1136/jnnp-2018-319586. Epub 2019 Jun 7.

PMID:
31175169
12.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG.

Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2.

13.

Clinical spectrum of the anti-GQ1b antibody syndrome: a case series of eight patients.

de Bruyn A, Poesen K, Bossuyt X, Heremans IP, Claeys T, Depuydt CE, Van Damme P, Claeys KG.

Acta Neurol Belg. 2019 Mar;119(1):29-36. doi: 10.1007/s13760-019-01093-8. Epub 2019 Feb 12.

PMID:
30747336
14.

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B.

J Neurol. 2019 Mar;266(3):680-690. doi: 10.1007/s00415-019-09187-2. Epub 2019 Jan 21.

15.

Regional variation of Guillain-Barré syndrome.

Doets AY, Verboon C, van den Berg B, Harbo T, Cornblath DR, Willison HJ, Islam Z, Attarian S, Barroso FA, Bateman K, Benedetti L, van den Bergh P, Casasnovas C, Cavaletti G, Chavada G, Claeys KG, Dardiotis E, Davidson A, van Doorn PA, Feasby TE, Galassi G, Gorson KC, Hartung HP, Hsieh ST, Hughes RAC, Illa I, Islam B, Kusunoki S, Kuwabara S, Lehmann HC, Miller JAL, Mohammad QD, Monges S, Nobile Orazio E, Pardo J, Pereon Y, Rinaldi S, Querol L, Reddel SW, Reisin RC, Shahrizaila N, Sindrup SH, Waqar W, Jacobs BC; IGOS Consortium.

Brain. 2018 Oct 1;141(10):2866-2877. doi: 10.1093/brain/awy232.

16.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernández-Torrón R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V.

Skelet Muscle. 2018 Jul 30;8(1):23. doi: 10.1186/s13395-018-0170-1.

17.

Malignant hyperthermia: still an issue for neuromuscular diseases?

De Wel B, Claeys KG.

Curr Opin Neurol. 2018 Oct;31(5):628-634. doi: 10.1097/WCO.0000000000000592. Review.

PMID:
30015672
18.

Late onset necrotizing autoimmune myopathy 1 year after cessation of statin treatment.

Balke M, Brunn A, Claeys KG, Fink GR, Wunderlich G.

Acta Neurol Belg. 2019 Sep;119(3):487-489. doi: 10.1007/s13760-018-0985-x. Epub 2018 Jul 14. No abstract available.

PMID:
30008064
19.

Serum neurofilament light chain levels as a marker of upper motor neuron degeneration in patients with Amyotrophic Lateral Sclerosis.

Gille B, De Schaepdryver M, Goossens J, Dedeene L, De Vocht J, Oldoni E, Goris A, Van Den Bosch L, Depreitere B, Claeys KG, Tournoy J, Van Damme P, Poesen K.

Neuropathol Appl Neurobiol. 2019 Apr;45(3):291-304. doi: 10.1111/nan.12511. Epub 2018 Jul 18.

PMID:
29908069
20.

Implementing Motor Unit Number Index (MUNIX) in a large clinical trial: Real world experience from 27 centres.

Neuwirth C, Braun N, Claeys KG, Bucelli R, Fournier C, Bromberg M, Petri S, Goedee S, Lenglet T, Leppanen R, Canosa A, Goodman I, Al-Lozi M, Ohkubo T, Hübers A, Atassi N, Abrahao A, Funke A, Appelfeller M, Tümmler A, Finegan E, Glass JD, Babu S, Ladha SS, Kwast-Rabben O, Juntas-Morales R, Coffey A, Chaudhry V, Vu T, Saephanh C, Newhard C, Zakrzewski M, Rosier E, Hamel N, Raheja D, Raaijman J, Ferguson T, Weber M.

Clin Neurophysiol. 2018 Aug;129(8):1756-1762. doi: 10.1016/j.clinph.2018.04.614. Epub 2018 May 3.

PMID:
29803404
21.

Comprehensive analysis of the mutation spectrum in 301 German ALS families.

Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, Hübers A, Otto M, Dorst J, Meitinger T, Strom TM, Andersen PM, Ludolph AC, Weishaupt JH; German ALS network MND-NET.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):817-827. doi: 10.1136/jnnp-2017-317611. Epub 2018 Apr 12.

PMID:
29650794
22.

Detection of myositis-specific antibodies.

Vulsteke JB, De Langhe E, Claeys KG, Dillaerts D, Poesen K, Lenaerts J, Westhovens R, Van Damme P, Blockmans D, De Haes P, Bossuyt X.

Ann Rheum Dis. 2019 Jan;78(1):e7. doi: 10.1136/annrheumdis-2017-212915. Epub 2018 Jan 25. No abstract available.

PMID:
29371203
23.

Hot-spot KIF5A mutations cause familial ALS.

Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET.

Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370.

24.

Anterior interosseous mononeuropathy associated with HEV infection.

Swinnen B, Boeynaems S, Schrooten M, Saegeman V, Claeys KG, Van Damme P.

Neurol Neuroimmunol Neuroinflamm. 2017 Dec 22;5(2):e429. doi: 10.1212/NXI.0000000000000429. eCollection 2018 Mar. No abstract available.

25.

Limb girdle muscular dystrophy due to mutations in POMT2.

Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J.

J Neurol Neurosurg Psychiatry. 2018 May;89(5):506-512. doi: 10.1136/jnnp-2017-317018. Epub 2017 Nov 24.

PMID:
29175898
26.

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Johnson K, Töpf A, Bertoli M, Phillips L, Claeys KG, Stojanovic VR, Perić S, Hahn A, Maddison P, Akay E, Bastian AE, Łusakowska A, Kostera-Pruszczyk A, Lek M, Xu L, MacArthur DG, Straub V.

Orphanet J Rare Dis. 2017 Nov 17;12(1):173. doi: 10.1186/s13023-017-0722-1.

27.

Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis.

De Schaepdryver M, Jeromin A, Gille B, Claeys KG, Herbst V, Brix B, Van Damme P, Poesen K.

J Neurol Neurosurg Psychiatry. 2018 Apr;89(4):367-373. doi: 10.1136/jnnp-2017-316605. Epub 2017 Oct 20.

PMID:
29054919
28.

Clinical and biometrical 12-month follow-up in patients after reconstruction of the sural nerve biopsy defect by the collagen-based nerve guide Neuromaix.

Bozkurt A, Claeys KG, Schrading S, Rödler JV, Altinova H, Schulz JB, Weis J, Pallua N, van Neerven SGA.

Eur J Med Res. 2017 Sep 22;22(1):34. doi: 10.1186/s40001-017-0279-4.

29.

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. doi: 10.1111/jnc.14217. Epub 2017 Nov 7.

30.

Prognostic value of clinical and electrodiagnostic parameters at time of diagnosis in patients with amyotrophic lateral sclerosis.

Reniers W, Schrooten M, Claeys KG, Tilkin P, D'Hondt A, Van Reijen D, Couwelier G, Lamaire N, Robberecht W, Fieuws S, Van Damme P.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):341-350. doi: 10.1080/21678421.2017.1288254. Epub 2017 Feb 15.

PMID:
28631957
31.

Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis.

Cordts I, Bodart N, Hartmann K, Karagiorgou K, Tzartos JS, Mei L, Reimann J, Van Damme P, Rivner MH, Vigneron A, Weis J, Schulz JB, Tzartos SJ, Claeys KG.

J Neurol. 2017 Jun;264(6):1193-1203. doi: 10.1007/s00415-017-8514-z. Epub 2017 May 17.

PMID:
28516329
32.

Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease.

Poesen K, De Schaepdryver M, Stubendorff B, Gille B, Muckova P, Wendler S, Prell T, Ringer TM, Rhode H, Stevens O, Claeys KG, Couwelier G, D'Hondt A, Lamaire N, Tilkin P, Van Reijen D, Gourmaud S, Fedtke N, Heiling B, Rumpel M, Rödiger A, Gunkel A, Witte OW, Paquet C, Vandenberghe R, Grosskreutz J, Van Damme P.

Neurology. 2017 Jun 13;88(24):2302-2309. doi: 10.1212/WNL.0000000000004029. Epub 2017 May 12.

PMID:
28500227
33.

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.

Schnitzler LJ, Schreckenbach T, Nadaj-Pakleza A, Stenzel W, Rushing EJ, Van Damme P, Ferbert A, Petri S, Hartmann C, Bornemann A, Meisel A, Petersen JA, Tousseyn T, Thal DR, Reimann J, De Jonghe P, Martin JJ, Van den Bergh PY, Schulz JB, Weis J, Claeys KG.

Orphanet J Rare Dis. 2017 May 11;12(1):86. doi: 10.1186/s13023-017-0640-2. Review.

34.

Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP).

Hube L, Dohrn MF, Karsai G, Hirshman S, Van Damme P, Schulz JB, Weis J, Hornemann T, Claeys KG.

PLoS One. 2017 Jan 23;12(1):e0170583. doi: 10.1371/journal.pone.0170583. eCollection 2017.

35.

Towards a functional pathology of hereditary neuropathies.

Weis J, Claeys KG, Roos A, Azzedine H, Katona I, Schröder JM, Senderek J.

Acta Neuropathol. 2017 Apr;133(4):493-515. doi: 10.1007/s00401-016-1645-y. Epub 2016 Nov 28. Review.

PMID:
27896434
36.

Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus-Associated Guillain-Barré Syndrome.

Stevens O, Claeys KG, Poesen K, Saegeman V, Van Damme P.

JAMA Neurol. 2017 Jan 1;74(1):26-33. doi: 10.1001/jamaneurol.2016.3541.

PMID:
27820624
37.

Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC.

van den Bogaart FJ, Claeys KG, Kley RA, Kusters B, Schrading S, Kamsteeg EJ, Voermans NC.

Neuromuscul Disord. 2017 Jan;27(1):73-77. doi: 10.1016/j.nmd.2016.09.017. Epub 2016 Sep 27.

PMID:
27816332
38.

Tubular aggregates in autoimmune Lambert-Eaton myasthenic syndrome.

Cordts I, Funk F, Schulz JB, Weis J, Claeys KG.

Neuromuscul Disord. 2016 Dec;26(12):880-884. doi: 10.1016/j.nmd.2016.09.011. Epub 2016 Sep 20.

PMID:
27816328
39.

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

Werheid F, Azzedine H, Zwerenz E, Bozkurt A, Moeller MJ, Lin L, Mull M, Häusler M, Schulz JB, Weis J, Claeys KG.

Brain Behav. 2016 Mar 4;6(4):e00451. doi: 10.1002/brb3.451. eCollection 2016 Apr.

40.

Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).

Claeys KG, Abicht A, Häusler M, Kleinle S, Wiesmann M, Schulz JB, Horvath R, Weis J.

Muscle Nerve. 2016 Aug;54(2):328-33. doi: 10.1002/mus.25125.

PMID:
27015314
41.

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.

Rudnik-Schöneborn S, Deden F, Eggermann K, Eggermann T, Wieczorek D, Sellhaus B, Yamoah A, Goswami A, Claeys KG, Weis J, Zerres K.

Muscle Nerve. 2016 Sep;54(3):496-500. doi: 10.1002/mus.25114. Epub 2016 Jul 9.

PMID:
26998597
42.

Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.

Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T.

J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19.

PMID:
26995359
43.

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M, Lukacs Z, Deschauer M, Gaeta M, Toscano A, Gläser D, Schoser B.

Neuromuscul Disord. 2015 Sep;25(9):719-24. doi: 10.1016/j.nmd.2015.07.002. Epub 2015 Jul 10.

PMID:
26231297
44.

Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.

Stenzel W, Preuße C, Allenbach Y, Pehl D, Junckerstorff R, Heppner FL, Nolte K, Aronica E, Kana V, Rushing E, Schneider U, Claeys KG, Benveniste O, Weis J, Goebel HH.

Neurology. 2015 Mar 31;84(13):1346-54. doi: 10.1212/WNL.0000000000001422. Epub 2015 Mar 6.

45.

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

Güttsches AK, Dekomien G, Claeys KG, von der Hagen M, Huebner A, Kley RA, Kirschner J, Vorgerd M.

Neuromuscul Disord. 2015 May;25(5):392-6. doi: 10.1016/j.nmd.2015.01.013. Epub 2015 Feb 3.

PMID:
25740301
46.

Elevation of plasma 1-deoxy-sphingolipids in type 2 diabetes mellitus: a susceptibility to neuropathy?

Dohrn MF, Othman A, Hirshman SK, Bode H, Alecu I, Fähndrich E, Karges W, Weis J, Schulz JB, Hornemann T, Claeys KG.

Eur J Neurol. 2015 May;22(5):806-14, e55. doi: 10.1111/ene.12663. Epub 2015 Jan 26.

PMID:
25623782
47.

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

Semmler AL, Sacconi S, Bach JE, Liebe C, Bürmann J, Kley RA, Ferbert A, Anderheiden R, Van den Bergh P, Martin JJ, De Jonghe P, Neuen-Jacob E, Müller O, Deschauer M, Bergmann M, Schröder JM, Vorgerd M, Schulz JB, Weis J, Kress W, Claeys KG.

Orphanet J Rare Dis. 2014 Aug 1;9:121. doi: 10.1186/s13023-014-0121-9.

48.

The proximal medial sural nerve biopsy model: a standardised and reproducible baseline clinical model for the translational evaluation of bioengineered nerve guides.

Bozkurt A, van Neerven SG, Claeys KG, O'Dey DM, Sudhoff A, Brook GA, Sellhaus B, Schulz JB, Weis J, Pallua N.

Biomed Res Int. 2014;2014:121452. doi: 10.1155/2014/121452. Epub 2014 Jun 2.

49.

Progressive cardiac dysfunction in Bethlem myopathy during pregnancy.

Flöck A, Kornblum C, Hammerstingl C, Claeys KG, Gembruch U, Merz WM.

Obstet Gynecol. 2014 Feb;123(2 Pt 2 Suppl 2):436-8. doi: 10.1097/AOG.0000000000000101.

PMID:
24413245
50.

Mitochondrial abnormalities in myofibrillar myopathies.

Joshi PR, Hauburger A, Kley R, Claeys KG, Schneider I, Kress W, Stoltenburg G, Weis J, Vorgerd M, Deschauer M, Hanisch F.

Clin Neuropathol. 2014 Mar-Apr;33(2):134-42. doi: 10.5414/NP300693.

PMID:
24361111

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