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Schlotter‐Weigel, Beate
36
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1
MPV17 mutations in juvenile‐ and adult‐onset axonal sensori..:
Baumann, Matthias
;
Schreiber, Herbert
;
Schlotter‐Weigel, Beate
...
Clinical Genetics. 95 (2018) 1 - p. 182-186 , 2018
Link:
https://doi.org/10.1111/..
?
2
Phenotypes of the N88S Berardinelli–Seip congenital lipodys..:
Auer‐Grumbach, Michaela
;
Schlotter‐Weigel, Beate
;
Lochmüller, Hanns
...
Annals of Neurology. 57 (2005) 3 - p. 415-424 , 2005
Link:
https://doi.org/10.1002/..
?
3
Bi-allelic truncating mutations in VWA1 cause neuromyopathy:
Deschauer, Marcus
;
Hengel, Holger
;
Rupprich, Katrin
...
Brain. 144 (2021) 2 - p. 574-583 , 2021
Link:
https://doi.org/10.1093/..
?
4
Intraepidermal nerve fibre density as biomarker in Charcot–..:
Hartmannsberger, Beate
;
Doppler, Kathrin
;
Stauber, Julia
...
Brain Communications. 2 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1093/..
?
5
The clinical, histologic, and genotypic spectrum ofSEPN1-re..:
Villar-Quiles, Rocio N.
;
von der Hagen, Maja
;
Métay, Corinne
...
Neurology. 95 (2020) 11 - p. , 2020
Link:
https://doi.org/10.1212/..
?
6
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 ..:
Wu, Jingxia
;
Ma, Sicong
;
Sandhoff, Roger
...
Immunity. 50 (2019) 5 - p. 1218-1231.e5 , 2019
Link:
https://doi.org/10.1016/..
?
7
Immunvermittelte / inflammatorische und hereditäre Neuropat..:
Schlotter-Weigel, Beate
;
Senderek, Jan
Fortschritte der Neurologie · Psychiatrie. 86 (2018) 9 - p. 566-574 , 2018
Link:
https://doi.org/10.1055/..
?
8
HIV-Associated Cerebellar Dysfunction and Improvement with ..:
Hoyer, Carolin
;
Alonso, Angelika
;
Schlotter-Weigel, Beate
..
Case Reports in Neurology. 9 (2017) 2 - p. 121-126 , 2017
Link:
https://doi.org/10.1159/..
?
9
Prevalence of Pompe disease in 3,076 patients with hyperCKe..:
Lukacs, Zoltan
;
Nieves Cobos, Paulina
;
Wenninger, Stephan
...
Neurology. 87 (2016) 3 - p. 295-298 , 2016
Link:
https://doi.org/10.1212/..
?
10
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hered..:
Suriyanarayanan, Saranya
;
Auranen, Mari
;
Toppila, Jussi
...
NeuroMolecular Medicine. 18 (2015) 1 - p. 81-90 , 2015
Link:
https://doi.org/10.1007/..
?
11
Selected items from the Charcot-Marie-Tooth (CMT) Neuropath..:
Mannil, Manoj
;
Solari, Alessandra
;
Leha, Andreas
...
Neuromuscular Disorders. 24 (2014) 11 - p. 1003-1017 , 2014
Link:
https://doi.org/10.1016/..
?
12
Treatment of dysferlinopathy with deflazacort: a double-bli..:
Walter, Maggie C
;
Reilich, Peter
;
Thiele, Simone
...
Orphanet Journal of Rare Diseases. 8 (2013) 1 - p. 26 , 2013
Link:
https://doi.org/10.1186/..
?
13
A rat model of Charcot–Marie–Tooth disease 1A recapitulates..:
Fledrich, Robert
;
Schlotter-Weigel, Beate
;
Schnizer, Tuuli J.
...
Brain. 135 (2011) 1 - p. 72-87 , 2011
Link:
https://doi.org/10.1093/..
?
14
Alterations in the ankyrin domain of TRPV4 cause congenital..:
Auer-Grumbach, Michaela
;
Olschewski, Andrea
;
Papić, Lea
...
Nature Genetics. 42 (2009) 2 - p. 160-164 , 2009
Link:
https://doi.org/10.1038/..
?
15
Late onset Pompe disease: Clinical and neurophysiological s..:
Müller-Felber, Wolfgang
;
Horvath, Rita
;
Gempel, Klaus
...
Neuromuscular Disorders. 17 (2007) 9-10 - p. 698-706 , 2007
Link:
https://doi.org/10.1016/..
1-15