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Items: 1 to 50 of 96

1.

VLDLR-associated Pontocerebellar Hypoplasia with Nonprogressive Congenital Ataxia and a Diagnostic Neuroimaging Pattern.

Wilker M, Christen HJ, Schuster S, Abicht A, Boltshauser E.

Neuropediatrics. 2019 Jul 1. doi: 10.1055/s-0039-1688953. [Epub ahead of print] No abstract available.

PMID:
31261436
2.

Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.

Ikenberg E, Reilich P, Abicht A, Heller C, Schoser B, Walter MC.

Neuromuscul Disord. 2019 May;29(5):392-397. doi: 10.1016/j.nmd.2019.02.007. Epub 2019 Feb 20.

PMID:
30992180
3.

Congenital myasthenic syndrome caused by novel COL13A1 mutations.

Dusl M, Moreno T, Munell F, Macaya A, Gratacòs M, Abicht A, Strom TM, Lochmüller H, Senderek J.

J Neurol. 2019 May;266(5):1107-1112. doi: 10.1007/s00415-019-09239-7. Epub 2019 Feb 14.

PMID:
30767057
4.

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.

Diebold I, Schön U, Horvath R, Schwartz O, Holinski-Feder E, Kölbel H, Abicht A.

Mol Cell Probes. 2019 Apr;44:14-20. doi: 10.1016/j.mcp.2019.01.003. Epub 2019 Jan 22.

PMID:
30682426
5.

Characteristic clinical and ultrastructural findings in nesprinopathies.

Kölbel H, Abicht A, Schwartz O, Katona I, Paulus W, Neuen-Jacob E, Weis J, Schara U.

Eur J Paediatr Neurol. 2019 Mar;23(2):254-261. doi: 10.1016/j.ejpn.2018.12.011. Epub 2018 Dec 29.

PMID:
30626539
6.

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.

Thompson R, Abicht A, Beeson D, Engel AG, Eymard B, Maxime E, Lochmüller H.

Orphanet J Rare Dis. 2018 Nov 26;13(1):211. doi: 10.1186/s13023-018-0955-7.

7.

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.

Abicht A, Scharf F, Kleinle S, Schön U, Holinski-Feder E, Horvath R, Benet-Pagès A, Diebold I.

Mol Genet Genomic Med. 2018 Nov;6(6):1188-1198. doi: 10.1002/mgg3.500. Epub 2018 Nov 8.

8.

[Congenital myasthenic syndromes in adulthood : Challenging, rare but treatable].

Wunderlich G, Abicht A, Brunn A, Daimagüler HS, Schroeter M, Fink GR, Lehmann HC, Cirak S.

Nervenarzt. 2019 Feb;90(2):148-159. doi: 10.1007/s00115-018-0562-9. Review. German.

PMID:
29974128
9.

The Curse of Apneic Spells.

Radke J, Dreesmann M, Radke M, von Moers A, Abicht A, Stenzel W, Goebel HH.

Semin Pediatr Neurol. 2018 Jul;26:56-58. doi: 10.1016/j.spen.2017.03.006. Epub 2017 Apr 13.

PMID:
29961520
10.

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.

Brusa R, Magri F, Papadimitriou D, Govoni A, Del Bo R, Ciscato P, Savarese M, Cinnante C, Walter MC, Abicht A, Bulst S, Corti S, Moggio M, Bresolin N, Nigro V, Comi GP.

Neuromuscul Disord. 2018 Jun;28(6):532-537. doi: 10.1016/j.nmd.2018.04.006. Epub 2018 Apr 13.

PMID:
29759638
11.

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.

McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H.

J Neurol. 2018 Jan;265(1):194-203. doi: 10.1007/s00415-017-8689-3. Epub 2017 Nov 30.

12.

Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860].

Ikenberg E, Karin I, Ertl-Wagner B, Abicht A, Bulst S, Krause S, Schoser B, Reilich P, Walter MC.

Neuromuscul Disord. 2017 Dec;27(12):e1. doi: 10.1016/j.nmd.2017.10.001. Epub 2017 Oct 23. No abstract available.

PMID:
29074295
13.

Molecular characterization of congenital myasthenic syndromes in Spain.

Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez C, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho A, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H, Nascimento A.

Neuromuscul Disord. 2017 Dec;27(12):1087-1098. doi: 10.1016/j.nmd.2017.08.003. Epub 2017 Aug 18.

PMID:
29054425
14.

Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.

Ikenberg E, Karin I, Ertl-Wagner B, Abicht A, Bulst S, Krause S, Schoser B, Reilich P, Walter MC.

Neuromuscul Disord. 2017 Sep;27(9):856-860. doi: 10.1016/j.nmd.2017.05.017. Epub 2017 Jun 1. Erratum in: Neuromuscul Disord. 2017 Dec;27(12 ):e1.

PMID:
28666572
15.

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Braunisch MC, Gallwitz H, Abicht A, Diebold I, Holinski-Feder E, Van Maldergem L, Lammens M, Kovács-Nagy R, Alhaddad B, Strom TM, Meitinger T, Senderek J, Rudnik-Schöneborn S, Haack TB.

Clin Genet. 2018 Feb;93(2):255-265. doi: 10.1111/cge.13084. Epub 2017 Nov 8.

PMID:
28653766
16.

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes.

McMacken G, Abicht A, Evangelista T, Spendiff S, Lochmüller H.

Neuropediatrics. 2017 Aug;48(4):294-308. doi: 10.1055/s-0037-1602832. Epub 2017 May 15. Review. No abstract available.

PMID:
28505670
17.

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A, Holinski-Feder E, Augustis S.

Neuromuscul Disord. 2017 May;27(5):473-476. doi: 10.1016/j.nmd.2017.02.005. Epub 2017 Feb 14.

PMID:
28279569
18.

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.

Elbracht M, Mull M, Wagner N, Kuhl C, Abicht A, Kurth I, Tenbrock K, Häusler M.

Neuropediatrics. 2017 Apr;48(2):111-114. doi: 10.1055/s-0036-1597611. Epub 2016 Dec 26.

PMID:
28024309
19.

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.

Lühl S, Bode H, Schlötzer W, Bartsakoulia M, Horvath R, Abicht A, Stenzel M, Kirschner J, Grünert SC.

Orphanet J Rare Dis. 2016 Oct 21;11(1):140.

20.

Congenital Myasthenic Syndromes.

Abicht A, Müller J S, Lochmüller H.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 May 9 [updated 2016 Jul 14].

21.

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

O'Connor E, Töpf A, Müller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmüller H.

Brain. 2016 Aug;139(Pt 8):2143-53. doi: 10.1093/brain/aww130. Epub 2016 Jun 3.

22.

Respiratory chain deficiency in nonmitochondrial disease.

Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R.

Neurol Genet. 2015 Apr 27;1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun.

23.

Mitochondrial dysfunction in liver failure requiring transplantation.

Lane M, Boczonadi V, Bachtari S, Gomez-Duran A, Langer T, Griffiths A, Kleinle S, Dineiger C, Abicht A, Holinski-Feder E, Schara U, Gerner P, Horvath R.

J Inherit Metab Dis. 2016 May;39(3):427-436. doi: 10.1007/s10545-016-9927-z. Epub 2016 Apr 6.

24.

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
25.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.

Natera-de Benito D, Bestué M, Vilchez JJ, Evangelista T, Töpf A, García-Ribes A, Trujillo-Tiebas MJ, García-Hoyos M, Ortez C, Camacho A, Jiménez E, Dusl M, Abicht A, Lochmüller H, Colomer J, Nascimento A.

Neuromuscul Disord. 2016 Feb;26(2):153-9. doi: 10.1016/j.nmd.2015.10.013. Epub 2015 Nov 23.

PMID:
26782015
26.

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.

Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Müller JS, Evangelista T, Töpf A, Thompson R, Jimenez-Mallebrera C, Colomer J, Lochmüller H.

J Neurol. 2016 Mar;263(3):517-23. doi: 10.1007/s00415-015-8015-x. Epub 2016 Jan 11.

PMID:
26754003
27.

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

Suriyanarayanan S, Auranen M, Toppila J, Paetau A, Shcherbii M, Palin E, Wei Y, Lohioja T, Schlotter-Weigel B, Schön U, Abicht A, Rautenstrauss B, Tyynismaa H, Walter MC, Hornemann T, Ylikallio E.

Neuromolecular Med. 2016 Mar;18(1):81-90. doi: 10.1007/s12017-015-8379-1. Epub 2015 Nov 16.

PMID:
26573920
28.

Thomsen myotonia--A 4-generation family with a new mutation and a mild phenotype.

Derevenciuc AI, Abicht A, Hamza S, Roth C, Ferbert A.

Muscle Nerve. 2016 Apr;53(4):653-4. doi: 10.1002/mus.24971. Epub 2015 Dec 29. No abstract available.

PMID:
26566215
29.

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.

Braczynski AK, Vlaho S, Müller K, Wittig I, Blank AE, Tews DS, Drott U, Kleinle S, Abicht A, Horvath R, Plate KH, Stenzel W, Goebel HH, Schulze A, Harter PN, Kieslich M, Mittelbronn M.

Biomed Res Int. 2015;2015:462592. doi: 10.1155/2015/462592. Epub 2015 Oct 13.

30.

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.

Köhler C, Heyer C, Hoffjan S, Stemmler S, Lücke T, Thiels C, Kohlschütter A, Löbel U, Horvath R, Kleinle S, Benet-Pages A, Abicht A.

Mol Cell Probes. 2015 Oct;29(5):319-22. doi: 10.1016/j.mcp.2015.06.005. Epub 2015 Aug 29.

PMID:
26327357
31.

A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia.

Ørstavik K, Wallace SC, Torbergsen T, Abicht A, Erik Tangsrud S, Kerty E, Rasmussen M.

J Neuromuscul Dis. 2015 Jun 4;2(2):181-184.

32.

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

Dusl M, Senderek J, Müller JS, Vogel JG, Pertl A, Stucka R, Lochmüller H, David R, Abicht A.

Hum Mol Genet. 2015 Jun 15;24(12):3418-26. doi: 10.1093/hmg/ddv090. Epub 2015 Mar 12.

PMID:
25765662
33.

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF.

JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.

34.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H.

Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20.

PMID:
24951643
35.

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.

Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H.

J Neuromuscul Dis. 2014;1(1):75-90.

36.

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG.

Neuromuscul Disord. 2014 Feb;24(2):117-24. doi: 10.1016/j.nmd.2013.10.002. Epub 2013 Oct 23. Review.

PMID:
24239060
37.

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

Gallenmüller C, Müller-Felber W, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Huebner A, Müller JS, Lochmüller H, Abicht A.

Neuromuscul Disord. 2014 Jan;24(1):31-5. doi: 10.1016/j.nmd.2013.08.002. Epub 2013 Aug 7.

38.

Novel CACNA1A mutation(s) associated with slow saccade velocities.

Kipfer S, Jung S, Lemke JR, Kipfer-Kauer A, Howell JP, Kaelin-Lang A, Nyffeler T, Gutbrod K, Abicht A, Müri RM.

J Neurol. 2013 Dec;260(12):3010-4. doi: 10.1007/s00415-013-7099-4. Epub 2013 Sep 18.

PMID:
24046065
39.

Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.

Rosenbohm A, Süssmuth SD, Kassubek J, Müller HP, Pontes C, Abicht A, Bulst S, Ludolph AC, Pinkhardt E.

Muscle Nerve. 2014 Mar;49(3):446-50. doi: 10.1002/mus.23979. Epub 2014 Jan 31.

PMID:
23893693
40.

Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome.

Peyer AK, Abicht A, Heinimann K, Sinnreich M, Fischer D.

Neuromuscul Disord. 2013 Jul;23(7):571-4. doi: 10.1016/j.nmd.2013.04.001. Epub 2013 May 18.

PMID:
23688972
41.

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.

Marina AD, Schara U, Pyle A, Möller-Hartmann C, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, Griffin H, Santibanez-Koref M, Chinnery PF, Horvath R.

JIMD Rep. 2013;10:17-22. doi: 10.1007/8904_2012_195. Epub 2012 Nov 18.

42.

Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis.

Dilena R, Abicht A, Sergi P, Comi GP, Di Fonzo A, Chidini G, Natacci F, Barbieri S, Lochmüller H.

J Child Neurol. 2014 Mar;29(3):389-93. doi: 10.1177/0883073812470000. Epub 2013 Jan 4.

PMID:
23292760
43.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R.

Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298.

44.

Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation.

Czell D, Abicht A, Hench J, Weber M.

BMJ Case Rep. 2012 Dec 6;2012. pii: bcr2012006980. doi: 10.1136/bcr-2012-006980.

45.

Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES.

van Baalen A, Häusler M, Plecko-Startinig B, Strautmanis J, Vlaho S, Gebhardt B, Rohr A, Abicht A, Kluger G, Stephani U, Probst C, Vincent A, Bien CG.

Neuropediatrics. 2012 Aug;43(4):209-16. doi: 10.1055/s-0032-1323848. Epub 2012 Aug 21.

PMID:
22911482
46.

Congenital myasthenic syndromes: current diagnostic and therapeutic approaches.

Schara U, Della Marina A, Abicht A.

Neuropediatrics. 2012 Aug;43(4):184-93. doi: 10.1055/s-0032-1323850. Epub 2012 Aug 21. Review.

PMID:
22911480
47.

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.

Mahjneh I, Lochmüller H, Muntoni F, Abicht A.

Neuromuscul Disord. 2013 Jan;23(1):36-42. doi: 10.1016/j.nmd.2012.06.355. Epub 2012 Aug 9.

PMID:
22884442
48.

Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.

Abicht A, Dusl M, Gallenmüller C, Guergueltcheva V, Schara U, Della Marina A, Wibbeler E, Almaras S, Mihaylova V, von der Hagen M, Huebner A, Chaouch A, Müller JS, Lochmüller H.

Hum Mutat. 2012 Oct;33(10):1474-84. doi: 10.1002/humu.22130. Epub 2012 Jun 27.

PMID:
22678886
49.

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.

Bulst S, Holinski-Feder E, Payne B, Abicht A, Krause S, Lochmüller H, Chinnery PF, Walter MC, Horvath R.

Mol Genet Metab. 2012 Sep;107(1-2):95-103. doi: 10.1016/j.ymgme.2012.04.022. Epub 2012 May 3.

50.

Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.

Brackmann F, Abicht A, Ahting U, Schröder R, Trollmann R.

Eur J Pediatr. 2012 May;171(5):859-62. doi: 10.1007/s00431-011-1662-8. Epub 2012 Jan 25.

PMID:
22270878

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