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1 . Academic Journal
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
저자
by
Bader, Ingrid
;
Freilinger, M.
;
Landauer, F.
;
Waldmüller, S.
;
Mueller-Felber, W.
, et al.
소스
Orphanet Journal of Rare Diseases
. 7/19/2022, Vol. 17 Issue 1, p1-10. 10p.
Open Access (BioMed Central)
Web of Science
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7 . Academic Journal
p report Rare intronic mutation between Exon 62 and 63 (c.9225-285A > G) of the dystrophin gene associated with atypical BMD phenotype
저자
by
Schuessler, S. C.
;
Gerhalter, T.
;
Abicht, A.
;
Mueller-Felber, W.
;
Nagel, A. M.
, et al.
소스
NEUROMUSCULAR DISORDERS
; AUG 2020, 30 8, p680-p684, 5p.
Full Text (Clinical Key)
Full Text (ScienceDirect)
Scopus
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7 . Academic Journal
Diagnosis and treatment of Guillain-Barre Syndrome in childhood and adolescence: An evidence- and consensus-based guideline
저자
by
Korinthenberg, R.
;
Trollmann, R.
;
Felderhoff-Mueser, U.
;
Bernert, G.
;
Hackenberg, A.
, et al.
소스
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
; MAR 2020, 25 p5-p16, 12p.
Full Text (Clinical Key)
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Scopus
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7 . Academic Journal
94. Pompe registry: Tracking pompe disease symptoms in a broad patient population
저자
by
Kishnani, P.
;
Byrne, B.
;
Case, L.
;
Merlini, L.
;
Müeller-Felber, W.
, et al.
소스
In
Clinical Neurophysiology
2009 120(2):e116-e116
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7 . Academic Journal
G.P.16.01. The Pompe registry: Tracking Pompe disease symptoms in a broad patient population
저자
by
Byrne, B.
;
Kishnani, P.S.
;
Case, L.
;
Merlini, L.
;
Müeller-Felber, W.
, et al.
소스
In
Neuromuscular Disorders
October 2008 18(9-10):827-827
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7 . Academic Journal
Shaken baby syndrome in a young infant. Course, outcome, discussion
저자
by
Landgraf, M. N.
;
Heinen, F.
;
Kammer, B.
;
Seubert, C.
;
Olivieri, M.
, et al.
소스
RECHTSMEDIZIN
; DEC 2018, 28 6, p507-p513, 7p.
Scopus
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7 . Academic Journal
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2
저자
by
Lassuthova, P.
;
Vill, K.
;
Erdem-Ozdamar, S.
;
Schroeder, J. M.
;
Topaloglu, H.
, et al.
소스
CLINICAL GENETICS
; NOV 2018, 94 5, p467-p472, 6p.
Scopus
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7 . Academic Journal
Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis.
저자
by
Blaschek, A.
;
Lohse, P.
;
Huss, K.
;
Borggraefe, I.
;
Mueller-Felber, W.
, et al.
소스
Multiple Sclerosis (13524585)
. 12/01/2010, Vol. 16 Issue 12, p1517-1520. 4p. 3 Black and White Photographs, 1 Diagram.
Full Text (SAGE)
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7 . Academic Journal
Return to Participation — Significant Improvement after Bilateral Pallidal Stimulation in Rapidly Progressive DYT-1 Dystonia.
저자
by
Borggraefe, I.
;
Boetzel, K.
;
Boehmer, J.
;
Berweck, S.
;
Mueller-Felber, W.
, et al.
소스
Neuropediatrics
. Aug2008, Vol. 39 Issue 4, p239-242. 4p. 1 Graph.
Web of Science
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7 . Academic Journal
Serum Levels of Matrix Metalloproteinases-2 and -9 and Their Tissue Inhibitors in Inflammatory Neuromuscular Disorders.
저자
by
Hurnaus, S.
;
Mueller-Felber, W.
;
Pongratz, D.
;
Schoser, B. G. H
.
소스
European Neurology
. 2006, Vol. 55 Issue 4, p204-208. 5p. 2 Charts, 1 Graph.
Web of Science
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