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Items: 20

1.

Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells.

Fontes-Oliveira CC, Steinz M, Schneiderat P, Mulder H, Durbeej M.

Sci Rep. 2017 Apr 3;7:45272. doi: 10.1038/srep45272.

2.

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
3.

Generation of a human iPSC line from a patient with a defect of intergenomic communication.

Zurita F, Galera T, González-Páramos C, Moreno-Izquierdo A, Schneiderat P, Fraga MF, Fernández AF, Garesse R, Gallardo ME.

Stem Cell Res. 2016 Jan;16(1):120-3. doi: 10.1016/j.scr.2015.12.016. Epub 2015 Dec 28.

4.

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.

Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmüller H.

Eur J Hum Genet. 2015 Sep;23(9):1116-23. doi: 10.1038/ejhg.2014.272. Epub 2014 Dec 24.

5.

Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy.

Meinke P, Schneiderat P, Srsen V, Korfali N, Lê Thành P, Cowan GJ, Cavanagh DR, Wehnert M, Schirmer EC, Walter MC.

Neuromuscul Disord. 2015 Feb;25(2):127-36. doi: 10.1016/j.nmd.2014.09.012. Epub 2014 Oct 6.

6.

Immortalized myogenic cells from congenital muscular dystrophy type1A patients recapitulate aberrant caspase activation in pathogenesis: a new tool for MDC1A research.

Yoon S, Stadler G, Beermann ML, Schmidt EV, Windelborn JA, Schneiderat P, Wright WE, Miller JB.

Skelet Muscle. 2013 Dec 6;3(1):28. doi: 10.1186/2044-5040-3-28.

7.

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.

Schreiber O, Schneiderat P, Kress W, Rautenstrauss B, Senderek J, Schoser B, Walter MC.

BMC Med Genet. 2013 Sep 16;14:92. doi: 10.1186/1471-2350-14-92.

8.

Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.

Stevens E, Torelli S, Feng L, Phadke R, Walter MC, Schneiderat P, Eddaoudi A, Sewry CA, Muntoni F.

PLoS One. 2013 Jul 22;8(7):e68958. doi: 10.1371/journal.pone.0068958. Print 2013.

9.

miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors.

Harafuji N, Schneiderat P, Walter MC, Chen YW.

Orphanet J Rare Dis. 2013 Apr 5;8:55. doi: 10.1186/1750-1172-8-55.

10.

Transplantation of genetically corrected human iPSC-derived progenitors in mice with limb-girdle muscular dystrophy.

Tedesco FS, Gerli MF, Perani L, Benedetti S, Ungaro F, Cassano M, Antonini S, Tagliafico E, Artusi V, Longa E, Tonlorenzi R, Ragazzi M, Calderazzi G, Hoshiya H, Cappellari O, Mora M, Schoser B, Schneiderat P, Oshimura M, Bottinelli R, Sampaolesi M, Torrente Y, Broccoli V, Cossu G.

Sci Transl Med. 2012 Jun 27;4(140):140ra89. doi: 10.1126/scitranslmed.3003541.

11.

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).

Reilich P, Krause S, Schramm N, Klutzny U, Bulst S, Zehetmayer B, Schneiderat P, Walter MC, Schoser B, Lochmüller H.

J Neurol. 2011 Aug;258(8):1437-44. doi: 10.1007/s00415-011-5953-9. Epub 2011 Feb 20.

PMID:
21336781
12.

Long-term efficiency of intravenously administered immunoglobulin in anti-Yo syndrome with paraneoplastic cerebellar degeneration.

Schessl J, Schuberth M, Reilich P, Schneiderat P, Strigl-Pill N, Walter MC, Schlotter-Weigel B, Schoser B.

J Neurol. 2011 May;258(5):946-7. doi: 10.1007/s00415-010-5859-y. Epub 2010 Dec 21. No abstract available.

PMID:
21174114
13.

Biobanking in rare disorders.

Lochmüller H, Schneiderat P.

Adv Exp Med Biol. 2010;686:105-13. doi: 10.1007/978-90-481-9485-8_7. Review.

PMID:
20824442
14.

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

Walter MC, Czermin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmüller H, Chinnery PF, Klopstock T, Horvath R.

J Neurol. 2010 Sep;257(9):1517-23. doi: 10.1007/s00415-010-5565-9. Epub 2010 Apr 20.

PMID:
20405137
15.

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.

Reilich P, Schramm N, Schoser B, Schneiderat P, Strigl-Pill N, Müller-Höcker J, Kress W, Ferbert A, Rudnik-Schöneborn S, Noth J, Lochmüller H, Weis J, Walter MC.

J Neurol. 2010 Jul;257(7):1108-18. doi: 10.1007/s00415-010-5471-1. Epub 2010 Feb 10.

PMID:
20146070
16.

Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys.

Erol I, Alehan F, Horvath R, Schneiderat P, Talim B.

Neuromuscul Disord. 2009 Apr;19(4):275-8. doi: 10.1016/j.nmd.2009.01.012. Epub 2009 Mar 9.

PMID:
19269823
17.

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia.

Horváth R, Bender A, Abicht A, Holinski-Feder E, Czermin B, Trips T, Schneiderat P, Lochmüller H, Klopstock T.

J Neurol. 2009 May;256(5):810-5. doi: 10.1007/s00415-009-5023-8. Epub 2009 Mar 1.

PMID:
19252805
18.

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, Pálmafy B, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, DiMauro S, Prokisch H, Lochmüller H, Horvath R.

Brain. 2007 Aug;130(Pt 8):2037-44. Epub 2007 Apr 5.

19.

Coenzyme Q10 deficiency and isolated myopathy.

Horvath R, Schneiderat P, Schoser BG, Gempel K, Neuen-Jacob E, Plöger H, Müller-Höcker J, Pongratz DE, Naini A, DiMauro S, Lochmüller H.

Neurology. 2006 Jan 24;66(2):253-5.

PMID:
16434667
20.

Functional analysis of apoptosis induction in acute myeloid leukaemia-relevance of karyotype and clinical treatment response.

Braess J, Schneiderat P, Schoch C, Fiegl M, Lorenz I, Hiddemann W.

Br J Haematol. 2004 Aug;126(3):338-47.

PMID:
15257705

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