Search Results - "Sperfeld, Anne"

Combination therapy for Sneddon syndrome to reduce the incidence of cerebrovascular complications by Narwutsch, Albert, Wohlrab, Johannes, Sperfeld, Anne‐D., Sunderkötter, Cord

“…Summary Background Sneddon syndrome is an occlusive vasculopathy that presents clinically with generalized livedo racemosa on the skin and transient ischemic…”
Get full text

Personality factors in patients with myasthenia gravis: A prospective study by Jordan, Berit, Förster, Luise, Buchholz, Theresa, Sperfeld, Anne‐Dorte, Zierz, Stephan

“…Abstract Introduction In myasthenia gravis (MG), depression and anxiety have frequently been reported as comorbidities. However, little is known about…”
Get full text

Comprehensive analysis of the mutation spectrum in 301 German ALS families by Müller, Kathrin, Brenner, David, Weydt, Patrick, Meyer, Thomas, Grehl, Torsten, Petri, Susanne, Grosskreutz, Julian, Schuster, Joachim, Volk, Alexander E, Borck, Guntram, Kubisch, Christian, Klopstock, Thomas, Zeller, Daniel, Jablonka, Sibylle, Sendtner, Michael, Klebe, Stephan, Knehr, Antje, Günther, Kornelia, Weis, Joachim, Claeys, Kristl G, Schrank, Berthold, Sperfeld, Anne-Dorte, Hübers, Annemarie, Otto, Markus, Dorst, Johannes, Meitinger, Thomas, Strom, Tim M, Andersen, Peter M, Ludolph, Albert C, Weishaupt, Jochen H

“…ObjectivesRecent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed that mutations in any of more than 25 genes can cause ALS, mostly as an…”
Get full text

Whole brain-based analysis of regional white matter tract alterations in rare motor neuron diseases by diffusion tensor imaging by Unrath, Alexander, Müller, Hans-Peter, Riecker, Axel, Ludolph, Albert C., Sperfeld, Anne-Dorte, Kassubek, Jan

“…Different motor neuron disorders (MNDs) are mainly defined by the clinical presentation based on the predominance of upper or lower motor neuron impairment and…”
Get full text

Accelerated aging phenotype in mice with conditional deficiency for mitochondrial superoxide dismutase in the connective tissue by Treiber, Nicolai, Maity, Pallab, Singh, Karmveer, Kohn, Matthias, Keist, Alexander F., Ferchiu, Florentina, Sante, Lea, Frese, Sebastian, Bloch, Wilhelm, Kreppel, Florian, Kochanek, Stefan, Sindrilaru, Anca, Iben, Sebastian, Högel, Josef, Ohnmacht, Michael, Claes, Lutz E., Ignatius, Anita, Chung, Jin H., Lee, Min J., Kamenisch, York, Berneburg, Mark, Nikolaus, Thorsten, Braunstein, Kerstin, Sperfeld, Anne‐Dorte, Ludolph, Albert C., Briviba, Karlis, Wlaschek, Meinhard, Scharffetter‐Kochanek, Karin

“…Summary The free radical theory of aging postulates that the production of mitochondrial reactive oxygen species is the major determinant of aging and…”
Get full text

Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD by Münch, Christoph, Rosenbohm, Angela, Sperfeld, Anne-Dorte, Uttner, Ingo, Reske, Sven, Krause, Bernd J., Sedlmeier, Reinhard, Meyer, Thomas, Hanemann, Clemens O., Stumm, Gabriele, Ludolph, Albert C.

“…A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co‐occurrence of…”
Get full text

Cardiac involvement in patients with Becker muscular dystrophy: new diagnostic and pathophysiological insights by a CMR approach by Yilmaz, Ali, Gdynia, Hans-Jürgen, Baccouche, Hannibal, Mahrholdt, Heiko, Meinhardt, Gabriel, Basso, Cristina, Thiene, Gaetano, Sperfeld, Anne-Dorte, Ludolph, Albert C, Sechtem, Udo

“…Becker-Kiener muscular dystrophy (BMD) represents an X-linked genetic disease associated with myocardial involvement potentially resulting in dilated…”
Get full text

Widespread white matter changes in Kennedy disease: a voxel based morphometry study by Kassubek, Jan, Juengling, Freimut D, Sperfeld, Anne-D

“…Objective:X linked spinobulbar muscular atrophy (Kennedy disease (KD)), which is clinically characterised mainly by neuromuscular and endocrine symptoms, has…”
Get full text

Diabetes Mellitus Is a Possible Risk Factor for Nodo-paranodopathy With Antiparanodal Autoantibodies by Appeltshauser, Luise, Messinger, Julia, Starz, Katharina, Heinrich, David, Brunder, Anna-Michelle, Stengel, Helena, Fiebig, Bianca, Ayzenberg, Ilya, Birklein, Frank, Dresel, Christian, Dorst, Johannes, Dvorak, Florian, Grimm, Alexander, Joerk, Alexander, Leypoldt, Frank, Mäurer, Mathias, Merl, Patrick, Michels, Sebastian, Pitarokoili, Kalliopi, Rosenfeldt, Mathias, Sperfeld, Anne-Dorte, Weihrauch, Marc, Welte, Gabriel Simon, Sommer, Claudia, Doppler, Kathrin

“…Nodo-paranodopathies are peripheral neuropathies with dysfunction of the node of Ranvier. Affected patients who are seropositive for antibodies against…”
Get full text

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? by Felbecker, Ansgar, Camu, William, Valdmanis, Paul N, Sperfeld, Anne-Dorte, Waibel, Stefan, Steinbach, Peter, Rouleau, Guy A, Ludolph, Albert C, Andersen, Peter M

“…Background153 mutations in the Cu/Zn superoxide dismutase (SOD1) gene have been claimed to be associated with amyotrophic lateral sclerosis (ALS) in familial…”
Get full text

Diffusion tensor imaging and tractwise fractional anisotropy statistics: quantitative analysis in white matter pathology by Mueller, Hans-Peter, Unrath, Alexander, Sperfeld, Anne D, Ludolph, Albert C, Riecker, Axel, Kassubek, Jan

“…Information on anatomical connectivity in the brain by measurements of the diffusion of water in white matter tracts lead to quantification of local tract…”
Get full text

Cardiac involvement in a female carrier of Duchenne muscular dystrophy by Walcher, Thomas, Kunze, Markus, Steinbach, Peter, Sperfeld, Anne-Dorte, Burgstahler, Christof, Hombach, Vinzenz, Torzewski, Jan

“…Abstract A 42 year-old female carrier of Duchenne muscular dystrophy (DMD) was referred with suspected subacute myocarditis and non-sustained ventricular…”
Get full text

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases by Arning, Larissa, Epplen, Jörg T., Rahikkala, Elisa, Hendrich, Corinna, Ludolph, Albert C., Sperfeld, Anne-Dorte

“…Mutations in the senataxin ( SETX ) gene can cause amyotrophic lateral sclerosis 4 (ALS4), an autosomal dominant form of juvenile onset amyotrophic lateral…”
Get full text

Diagnosis and treatment of bulbar symptoms in amyotrophic lateral sclerosis by Riecker, Axel, Kühnlein, Peter, Gdynia, Hans-Jürgen, Sperfeld, Anne-Dorte, Lindner-Pfleghar, Beate, Ludolph, Albert Christian, Prosiegel, Mario

“…Bulbar symptoms such as impaired swallowing and speech impairment are frequent features of amyotrophic lateral sclerosis and can markedly reduce life…”
Get full text

Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis by Fernández-Santiago, Rubén, Hoenig, Sabine, Lichtner, Peter, Sperfeld, Anne-Dorte, Sharma, Manu, Berg, Daniela, Weichenrieder, Oliver, Illig, Thomas, Eger, Katharina, Meyer, Thomas, Anneser, Johanna, Münch, Christoph, Zierz, Stephan, Gasser, Thomas, Ludolph, Albert

“…Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disease characterized by the selective death of motor neurons in the motor cortex,…”
Get full text

Histopathological analysis of skeletal muscle in patients with Parkinson's disease and ‘dropped head’/‘bent spine’ syndrome by Gdynia, Hans-Jürgen, Sperfeld, Anne-Dorte, Unrath, Alexander, Ludolph, Albert C, Sabolek, Michael, Storch, Alexander, Kassubek, Jan

“…Abstract Background ‘Dropped head’ and ‘bent spine’ phenomena are recognized clinical presentations of neuromuscular disorders. Similar symptoms are known in…”
Get full text

Intracerebral hemorrhage in a patient with glycogenosis type II (Pompe disease): Is there a pathophysiological relationship? by Brettschneider, Johannes, Sperfeld, Anne-D., Ludolph, Albert C., Kassubek, Jan

Get full text

Frontotemporal cognitive function in X-linked spinal and bulbar muscular atrophy (SBMA): a controlled neuropsychological study of 20 patients by Soukup, Georg Rüdiger, Sperfeld, Anne-Dorte, Uttner, Ingo, Karitzky, Jochen, Ludolph, Albert Christian, Kassubek, Jan, Schreiber, Herbert

“…A cross-sectional neuropsychological study of cognitive functions in 20 male patients with genetically proven spinal and bulbar muscular atrophy (SBMA) was…”
Get full text

Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis by Kress, Julia A., Kühnlein, Peter, Winter, Pia, Ludolph, Albert C., Kassubek, Jan, Müller, Ulrich, Sperfeld, Anne-Dorte

“…We present a 32‐year‐old Turkish male with juvenile amyotrophic lateral sclerosis 2 and a previously unrecognized homozygous deletion in exon 4 of the ALS2…”
Get full text

The cerebro-morphological fingerprint of a progeroid syndrome: white matter changes correlate with neurological symptoms in xeroderma pigmentosum by Kassubek, Jan, Sperfeld, Anne-Dorte, Pinkhardt, Elmar H, Unrath, Alexander, Müller, Hans-Peter, Scharffetter-Kochanek, Karin, Ludolph, Albert C, Berneburg, Mark

“…Xeroderma pigmentosum (XP) is a rare autosomal recessive progeroid syndrome. It has recently been shown that the underlying DNA repair defect plays a central…”
Get full text