B. Schlotter‐Weigel

发表

B. Schlotter-Weigel, D. Pongratz, B. Schlotter‐Weigel, 2002 .

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

T. Hornemann, Anke Penno, B. Schlotter-Weigel, 2010, American journal of human genetics.

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.

Andreas C. Themistocleous, T. Wieland, B. Schlotter-Weigel, 2016, American journal of human genetics.

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

B. Schlotter-Weigel, K. Gempel, H. Lochmüller, 2007, Neuromuscular Disorders.

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.

Juliet A. Ellis, B. Schlotter-Weigel, J. Skepper, 2007, Human molecular genetics.

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Andrea Olschewski, Zoltán Bálint, Eleonore Fröhlich, 2009, Nature Genetics.

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

B. Schlotter-Weigel, B. Schoser, Z. Lukacs, 2016, Neurology.

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial

B. Schlotter-Weigel, M. Vorgerd, Hanns Lochmüller, 2013, Orphanet Journal of Rare Diseases.

Phenotypes of the N88S Berardinelli–Seip congenital lipodystrophy 2 mutation

B. Schlotter-Weigel, H. Hartung, H. Offenbacher, 2005, Annals of neurology.

The genetic landscape of axonal neuropathies in the middle-aged and elderly

B. Schlotter-Weigel, T. Strom, S. Züchner, 2020, Neurology.

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A

T. Beißbarth, B. Schlotter-Weigel, A. Leha, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

Wolfgang Müller-Felber, Heinz Wiendl, Sabine Krause, 2003, Neuromuscular Disorders.

Intraepidermal nerve fibre density as biomarker in Charcot–Marie–Tooth disease type 1A

B. Schlotter-Weigel, C. Sommer, M. Sereda, 2020, Brain communications.

A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients.

B. Schlotter-Weigel, W. Paulus, M. Rossner, 2012, Brain : a journal of neurology.

Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood.

B. Schlotter-Weigel, Hanns Lochmüller, D. Pongratz, 2004, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy

E. Bertini, B. Schlotter-Weigel, E. Malfatti, 2020, Neurology.

HIV-Associated Cerebellar Dysfunction and Improvement with Aminopyridine Therapy: A Case Report

B. Schlotter-Weigel, M. Fatar, A. Alonso, 2017, Case Reports in Neurology.

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

B. Schlotter-Weigel, T. Meitinger, T. Strom, 2021, Brain : a journal of neurology.

Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

I. Katona, T. Hornemann, B. Schlotter-Weigel, 2017, Journal of neurochemistry.

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

A. Paetau, T. Hornemann, Yu Wei, 2015, NeuroMolecular Medicine.

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.

B. Schlotter-Weigel, W. Löscher, A. Hotz-Wagenblatt, 2019, Immunity.

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

B. Schlotter-Weigel, L. Schöls, T. Pieber, 2007, Journal of the Neurological Sciences.

Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.

B. Schlotter-Weigel, I. Borggraefe, A. Blaschek, 2017, Journal of neuromuscular diseases.

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy

B. Schlotter-Weigel, Hanns Lochmüller, D. Pongratz, 2006, Neuromuscular Disorders.

The long-term outcome of anti-Jo-1-positive inflammatory myopathies

B. Schlotter-Weigel, H. Hautmann, G. Leinsinger, 2004, Journal of Neurology.

14 – Myasthenia gravis

B. Schlotter-Weigel, B. Schlotter‐Weigel, 2015 .

19 – Myasthenia gravis

B. Schlotter-Weigel, B. Schlotter‐Weigel, 2013 .

Polyneuropathie - Diagnostik

B. Schlotter-Weigel, D. Pongratz, B. Schlotter‐Weigel, 2002 .

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

T. Hornemann, Anke Penno, W. Löscher, 2010, American journal of human genetics.