Search Results - "Zierz, S"

Physical fatigability and muscle pain in patients with Hashimoto thyroiditis by Jordan, B., Uer, O., Buchholz, T., Spens, A., Zierz, S.

“…Introduction Hashimoto thyroiditis (HT) may lead to muscle weakness due to hypothyroid dysfunction. However, clinical experience treating patients with HT…”
Get full text

Manifesting heterozygotes in carnitine palmitoyltransferase (CPT) II deficiency by Joshi, P, Zierz, S

Get full text

S45-3 Diagnostic value of muscle biopsy versus molecular genetics in myopathies by Zierz, S

Get full text

The significance of pathological spontaneous activity in various myopathies by Hanisch, F, Kronenberger, C, Zierz, S, Kornhuber, M

“…Highlights • High frequency discharges (i.e., myotonic discharges and complex repetitive discharges) occur frequently in non-myotonic dystrophies as Pompe…”
Get full text

EP 89. Experimental provocation of “ice-cream headache” by ice cubes and ice water by Mages, S, Hensel, O, Kraya, T, Zierz, S

“…Introduction Ice-cream headache, now called “Headache attributed to ingestion or inhalation of cold stimulus” (HICS), is characterized by a short-lasting…”
Get full text

EP 42. Smooth muscle involvement in Glycogenosis Type II: Thalamus hemorrhage, increased blood flow and dolichoectasia in a late-onset Pompe patient by Hensel, O, Schneider, I, Zierz, S

“…Introduction Pompe disease (Glycogenosis Type II) is a rare autosomal-recessive disorder caused by mutations in the GAA gene encoding for the lysosomal α…”
Get full text

Treatment of adult idiopathic inflammatory myopathies with conventional immunosuppressive drugs: Results of a retrospective study by Keyßer, G., Zierz, S., Kornhuber, M.

“…Objectives To gain information about the efficacy of immunosuppressive drugs as first-, second-, and third-line treatment of idiopathic inflammatory myopathies…”
Get full text

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis by Deschauer, M., Gaul, C., Behrmann, C., Prokisch, H., Zierz, S., Haack, T. B.

“…Mutations in C19orf12 have been recently identified as the molecular genetic cause of a subtype of neurodegeneration with brain iron accumulation (NBIA). Given…”
Get full text

Polyglucosan myopathy and functional characterization of a novel GYG1 mutation by Hedberg‐Oldfors, C., Mensch, A., Visuttijai, K., Stoltenburg, G., Stoevesandt, D., Kraya, T., Oldfors, A., Zierz, S.

“…Objectives Disorders of glycogen metabolism include rare hereditary muscle glycogen storage diseases with polyglucosan, which are characterized by storage of…”
Get full text

Use of complementary and alternative medicine in patients suffering from primary headache disorders by Gaul, C, Eismann, R, Schmidt, T, May, A, Leinisch, E, Wieser, T, Evers, S, Henkel, K, Franz, G, Zierz, S

“…Complementary and alternative medicine (CAM) is increasingly common in the treatment of primary headache disorders despite lack of evidence for efficacy in…”
Get more information

T.P.29 by Joshi, P.R, Apitz, T, Zierz, S

“…McArdle’s disease is characterized by deficiency of enzyme myophosphorylase that disrupts the mechanism of glycogen breakdown in skeletal muscle. In McArdle…”
Get full text

Melas associated with mutations in the POLG1 gene by DESCHAUER, M, TENNANT, S, ROKICKA, A, HE, L, KRAYA, T, TURNBULL, D. M, ZIERZ, S, TAYLOR, R. W

Get full text

High dose vitamin E therapy in amyotrophic lateral sclerosis as add-on therapy to riluzole: results of a placebo-controlled double-blind study by Graf, M, Ecker, D, Horowski, R, Kramer, B, Riederer, P, Gerlach, M, Hager, C, Ludolph, A C, Becker, G, Osterhage, J, Jost, W H, Schrank, B, Stein, C, Kostopulos, P, Lubik, S, Wekwerth, K, Dengler, R, Troeger, M, Wuerz, A, Hoge, A, Schrader, C, Schimke, N, Krampfl, K, Petri, S, Zierz, S, Eger, K, Neudecker, S, Traufeller, K, Sievert, M, Neundörfer, B, Hecht, M

“…Increasing evidence has suggested that oxidative stress may be involved in the pathogenesis of amyotrophic lateral sclerosis (ALS). The antioxidant vitamin E…”
Get full text

P39. Assigning pathogenicity to three novel mt-tRNA mutations associated with different mitochondrial disease presentations by Lehmann, D, Schubert, K, Joshi, P.R, Baty, K, Blakely, E.L, Hardy, S, Bamberg, C, Zierz, S, Taylor, R.W, Deschauer, M

“…Mitochondrial transfer RNA (mt-tRNA) mutations are the commonest mitochondrial (mtDNA) mutations associated with human disease. Assigning pathogenicity to…”
Get full text

Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations by Hanisch, F., Müller, T., Dietz, A., Bitoun, M., Kress, W., Weis, J., Stoltenburg, G., Zierz, S.

“…Autosomal-dominant centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene ( DNM2 ) is a rare congenital myopathy histopathologically characterized…”
Get full text

P.17.14 Myohistological mitochondrial changes in patients with mtDNA singular deletions, multiple deletions and A3243G point mutation by Joshi, P.R, Zierz, C, Zierz, S

“…Chronic progredient external opthalmoplegia (CPEO) and the MELAS syndrome are the most common disorders that are associated with mitochondrial changes. CPEO is…”
Get full text

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism by HUDSON, G, DESCHAUER, M, BUSSE, K, ZIERZ, S, CHINNERY, P. F

“…The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleotide 955 of C10Orf2…”
Get full text

Unusual manifestations in two cases of necrotizing myopathy associated with SRP-antibodies by Hanisch, F, Müller, T, Stoltenburg, G, Zierz, S

“…Abstract Anti-SRP (signal recognition particle) positive necrotizing myopathy is commonly not associated with neoplasms. We demonstrate two histologically…”
Get full text

Cerebrovascular reactivity is impaired in patients with cardiac failure by Georgiadis, D, Sievert, M, Cencetti, S, Uhlmann, F, Krivokuca, M, Zierz, S, Werdan, K

“…Aims We undertook this study to evaluate potential changes in cerebral vasoreactivity in patients with cardiac failure and their consequent dependence upon…”
Get full text

Subtle cognitive dysfunction in adult onset myotonic dystrophy type 1 (DM1) and type 2 (DM2) by GAUL, C, SCHMIDT, T, WINDISCH, G, WIESER, T, MÜLLER, T, VIELHABER, S, ZIERZ, S, LEPLOW, B

“…The authors performed neuropsychological testing in 21 patients with myotonic dystrophy type 1 (DM1) and 21 with type 2 (DM2) and healthy controls. They…”
Get full text