Schneider-Gold, Christiane

[["dc.bibliographiccitation.firstpage","1236"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","Journal of Neurology"],["dc.bibliographiccitation.lastpage","1237"],["dc.bibliographiccitation.volume","253"],["dc.contributor.author","Schneider-Gold, Christiane"],["dc.contributor.author","Wessig, Carsten"],["dc.contributor.author","Hoepker, Martin"],["dc.contributor.author","Erdlenbruch, Bernhard"],["dc.contributor.author","Gold, Ralf"],["dc.contributor.author","Toyka, Klaus V."],["dc.date.accessioned","2018-11-07T09:21:23Z"],["dc.date.available","2018-11-07T09:21:23Z"],["dc.date.issued","2006"],["dc.identifier.doi","10.1007/s00415-006-0150-y"],["dc.identifier.isi","000241113100021"],["dc.identifier.pmid","16598612"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/29091"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Dr Dietrich Steinkopff Verlag"],["dc.relation.issn","0340-5354"],["dc.title","Pregnancy and delivery of a healthy baby in autoimmune Lambert-Eaton myasthenic syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.subtype","letter_note"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1904"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","Journal of Neurology"],["dc.bibliographiccitation.lastpage","1909"],["dc.bibliographiccitation.volume","255"],["dc.contributor.author","Minnerop, Martina"],["dc.contributor.author","Luders, Eileen"],["dc.contributor.author","Specht, Karsten"],["dc.contributor.author","Ruhlmann, Juergen"],["dc.contributor.author","Schneider-Gold, Christiane"],["dc.contributor.author","Schroeder, Rolf"],["dc.contributor.author","Thompson, Paul M."],["dc.contributor.author","Toga, Arthur W."],["dc.contributor.author","Klockgether, Thomas"],["dc.contributor.author","Kornblum, Cornelia"],["dc.date.accessioned","2018-11-07T11:08:40Z"],["dc.date.available","2018-11-07T11:08:40Z"],["dc.date.issued","2008"],["dc.description.abstract","Myotonic dystrophy type 2 (DM2) is an autosomal dominantly inherited multisystemic disorder and a common cause of muscular dystrophy in adults. Although neuromuscular symptoms predominate, there is clinical and imaging evidence of cerebral involvement. We used voxel-based morphometry (VBM) based on T1-weighted magnetic resonance images to investigate brain morphology in 13 DM2 patients in comparison to 13 sex- and age-matched controls. Further, we employed novel computational surface-based methods that specifically assess callosal thickness. We found grey and white matter loss along cerebral midline structures in our patient group. Grey matter reductions were present in brain-stem and adjacent hypothalamic and thalamic regions, while white matter was mainly reduced in corpus callosum. The reduced callosal size was highly significant and independently confirmed by different methods. Our data provide first evidence for grey and white matter loss along brain midline structures in DM2 patients. The reduced size of the corpus callosum further extends the spectrum of white matter changes in DM2 and may represent the morphological substrate of neuropsychological abnormalities previously described in this disorder."],["dc.identifier.doi","10.1007/s00415-008-0997-1"],["dc.identifier.isi","000263221100007"],["dc.identifier.pmid","19224318"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52838"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Dr Dietrich Steinkopff Verlag"],["dc.relation.issn","0340-5354"],["dc.title","Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","500"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.lastpage","502"],["dc.bibliographiccitation.volume","60"],["dc.contributor.author","Schneider-Gold, C."],["dc.contributor.author","Beck, M."],["dc.contributor.author","Wessig, C."],["dc.contributor.author","George, A."],["dc.contributor.author","Kele, H."],["dc.contributor.author","Reiners, Kerstin"],["dc.contributor.author","Toyka, Klaus V."],["dc.date.accessioned","2018-11-07T10:40:56Z"],["dc.date.available","2018-11-07T10:40:56Z"],["dc.date.issued","2003"],["dc.description.abstract","The efficacy and safety of creatine monohydrate (Cr) in patients with myotonic dystrophy type 2/proximal myotonic myopathy were studied in a small placebo-controlled double-blind trial. Twenty patients received either Cr or placebo for 3 months. After 3 months, there were no significant differences of muscle strength as assessed by hand-held dynamometry, testing of maximum grip strength, Medical Research Council scoring, and the Neuromuscular Symptom Score between the two groups. Some measures indicated trends toward mild improvement with Cr. Myalgia improved in two patients."],["dc.identifier.isi","000181014500027"],["dc.identifier.pmid","12578937"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/46421"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Lippincott Williams & Wilkins"],["dc.relation.issn","0028-3878"],["dc.title","Creatine monohydrate in DM2/PROMM - A double-blind placebo-controlled clinical study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","477"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Aktuelle Neurologie"],["dc.bibliographiccitation.lastpage","480"],["dc.bibliographiccitation.volume","32"],["dc.contributor.author","Schneider-Gold, C."],["dc.contributor.author","Bähr, M."],["dc.contributor.author","Gold, R."],["dc.date.accessioned","2017-09-07T11:54:11Z"],["dc.date.available","2017-09-07T11:54:11Z"],["dc.date.issued","2005"],["dc.description.abstract","Mycophenolate mofetil (MMF) is a novel immunosuppressive drug and has been applied in myasthenia gravis, dysimmune polyneuropathies, myositis, multiple sclerosis and cerebral vasculitis. The spectrum of neurological diseases in which MMF may be effective is not finally delineated. So far, only in myasthenia gravis the efficacy and safety of MMF has been evaluated by retrospective analyses, one open-label study and one placebo-controlled double blind study. in myasthenia gravis, replacement of azathioprine or cyclosporine A by MMF seems to be useful in non-responders or in case of intolerance. Further controlled studies are necessary to evaluate short-term and long-term effects of MMF in neurological autoimmune diseases."],["dc.description.abstract","Mykophenolatmofetil (MMF) erweitert das Spektrum immunmodulatorischer Substanzen, die in der Therapie neuroimmunologischer Erkrankungen eingesetzt werden können. Bisher sind positive therapeutische Effekte bei Myasthenia gravis, Myositiden, autoimmunen Polyneuropathien, multipler Sklerose und zerebraler Vaskulitis beschrieben worden. Das Spektrum möglicher Indikationen für die Verabreichung von MMF auf neurologischem Fachgebiet ist aktuell noch nicht abschließend definiert. Die Indikation für den „Off-label”-Einsatz von MMF muss im Einzelfall sorgfältig geprüft werden. Bei Myasthenia gravis konnten sowohl retrospektive Analysen als auch eine offene Studie und eine randomisierte plazebokontrollierte Studie die Wirksamkeit und gute Verträglichkeit belegen. MMF scheint daher eine mögliche therapeutische Alternative zu Azathioprin oder Ciclosporin A bei Unverträglichkeiten oder unzureichender Wirksamkeit zu sein. Weitere kontrollierte Studien sind notwendig, um die Kurz- und Langzeiteffekte von MMF bei neuroimmunologischen Erkrankungen genauer zu evaluieren."],["dc.identifier.doi","10.1055/s-2005-866941"],["dc.identifier.gro","3143799"],["dc.identifier.isi","000232782200005"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1353"],["dc.language.iso","de"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","0302-4350"],["dc.title","Mycophenolate mofetil: A new therapeutic option in neuroimmunological diseases"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","345"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Journal of Medical Case Reports"],["dc.bibliographiccitation.volume","6"],["dc.contributor.author","Neusch, Clemens"],["dc.contributor.author","Kuhlmann, Tanja"],["dc.contributor.author","Kress, Wolfram"],["dc.contributor.author","Schneider-Gold, Christiane"],["dc.date.accessioned","2019-07-09T11:53:53Z"],["dc.date.available","2019-07-09T11:53:53Z"],["dc.date.issued","2012"],["dc.description.abstract","Introduction Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene. However, many of the late-onset limb-girdle and distal myopathies that resemble dysferlinopathy or Miyoshi myopathy remain unclassified, even after extensive immunohistological and genetic analysis. Case presentation We report the case of a 59-year-old Caucasian man with distal myopathy and exercise-induced myalgia, preferentially of the leg muscles, closely resembling the Miyoshi phenotype. Magnetic resonance imaging of his calf muscles showed typical fatty replacement of the medial heads of the gastrocnemius muscles and soleus muscles, with progression to the adductor longus muscles over a time course of two years. However, genetic analysis revealed that the phenotype of our patient was not related to a mutation in the dysferlin gene but to a novel homozygous splice mutation in the anoctamin 5 gene. Mutations in the anoctamin 5 gene have so far been identified only in some cases of limb-girdle and distal myopathy. Mutations in the anoctamin 5 gene have been assigned to limb-girdle muscular dystrophy type 2L, while distal Miyoshi-like phenotypes have been classified as Miyoshi myopathy type 3. Conclusion The case presented in this report further strengthens the underlying genetic heterogeneity in Miyoshi myopathy-like phenotypes and adds another family to non-dysferlin, Miyoshi myopathy type 3 of late-onset. Furthermore, our case supports the recent observation that anoctamin 5 mutations are a primary cause of distal non-dysferlin myopathies. Therefore, given the increasing number of anoctamin 5 mutations in Miyoshi-like phenotypes, genetic analysis should include an anoctamin 5 screen in late-onset limb-girdle and distal myopathies."],["dc.identifier.doi","10.1186/1752-1947-6-345"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/9982"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/60519"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.rights","CC BY 2.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/2.0"],["dc.title","Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","579"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.lastpage","580"],["dc.bibliographiccitation.volume","66"],["dc.contributor.author","Rudnik-Schoneborn, S."],["dc.contributor.author","Schneider-Gold, C."],["dc.contributor.author","Raabe, U."],["dc.contributor.author","Kress, W."],["dc.contributor.author","Zerres, K."],["dc.contributor.author","Schoser, BGH"],["dc.date.accessioned","2018-11-07T10:17:26Z"],["dc.date.available","2018-11-07T10:17:26Z"],["dc.date.issued","2006"],["dc.description.abstract","The authors reviewed the obstetric histories of 42 women of 37 families with myotonic dystrophy type 2 (DM2). Nine women (21%) had the first symptoms during pregnancy and worsening in subsequent pregnancies. Of 96 pregnancies, 13% ended as early and 4% as late miscarriages. Preterm labor occurred in 50% of pregnancies resulting in 27% preterm deliveries in women with overt DM2 in pregnancy. There was no evidence of a congenital DM2."],["dc.identifier.doi","10.1212/01.wnl.0000198227.91131.1e"],["dc.identifier.isi","000235645200029"],["dc.identifier.pmid","16505316"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/41224"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Lippincott Williams & Wilkins"],["dc.relation.issn","0028-3878"],["dc.title","Outcome and effect of pregnancy in myotonic dystrophy type 2"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","145"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Movement Disorders"],["dc.bibliographiccitation.lastpage","147"],["dc.bibliographiccitation.volume","22"],["dc.contributor.author","Hiller, Anja"],["dc.contributor.author","Hagenah, Johann M."],["dc.contributor.author","Djarmati, Ana"],["dc.contributor.author","Hedrich, Katja"],["dc.contributor.author","Reetz, Kathrin"],["dc.contributor.author","Schneider-Gold, Christiane"],["dc.contributor.author","Kress, Wolfgang"],["dc.contributor.author","Muenchau, Alexander"],["dc.contributor.author","Klein, Christine"],["dc.date.accessioned","2018-11-07T11:07:05Z"],["dc.date.available","2018-11-07T11:07:05Z"],["dc.date.issued","2007"],["dc.description.abstract","The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers. (C) 2006 Movement Disorder Society."],["dc.identifier.doi","10.1002/mds.21059"],["dc.identifier.isi","000244073400026"],["dc.identifier.pmid","17013904"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52473"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","0885-3185"],["dc.title","Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","235604"],["dc.bibliographiccitation.issue","23"],["dc.bibliographiccitation.journal","Journal of Physics Condensed Matter"],["dc.bibliographiccitation.volume","21"],["dc.contributor.author","Peyker, L."],["dc.contributor.author","Gold, C."],["dc.contributor.author","Scheidt, E-W"],["dc.contributor.author","Scherer, Wolfgang"],["dc.contributor.author","Donath, J. G."],["dc.contributor.author","Gegenwart, Philipp"],["dc.contributor.author","Mayr, F."],["dc.contributor.author","Unruh, T."],["dc.contributor.author","Eyert, V."],["dc.contributor.author","Bauer, E."],["dc.contributor.author","Michor, H."],["dc.date.accessioned","2018-11-07T08:28:46Z"],["dc.date.available","2018-11-07T08:28:46Z"],["dc.date.issued","2009"],["dc.description.abstract","Crystal structure, specific heat, thermal expansion, magnetic susceptibility and electrical resistivity studies of the heavy fermion system CeNi9-xCuxGe4 (0 <= x <= 1) reveal a continuous tuning of the ground state by Ni/Cu substitution from an effectively fourfold-degenerate non-magnetic Kondo ground state of CeNi9Ge4 (with pronounced non-Fermi-liquid features) towards a magnetically ordered, effectively twofold-degenerate ground state in CeNi8CuGe4 with T-N = 175 +/- 5 mK. Quantum critical behavior, C/T proportional to chi proportional to - ln T, is observed for x congruent to 0.4. Hitherto, CeNi9-xCuxGe4 represents the first system where a substitution-driven quantum phase transition is connected not only with changes of the relative strength of the Kondo effect and RKKY interaction, but also with a reduction of the effective crystal field ground state degeneracy."],["dc.description.sponsorship","Deutsche Forschungsgemeinschaft (DFG) [SCHE487/7-1]; European Union"],["dc.identifier.doi","10.1088/0953-8984/21/23/235604"],["dc.identifier.isi","000266581200017"],["dc.identifier.pmid","21825591"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/16499"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Iop Publishing Ltd"],["dc.relation.issn","0953-8984"],["dc.title","Evolution of quantum criticality in CeNi9-xCuxGe4"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","575"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","European Journal of Neurology"],["dc.bibliographiccitation.lastpage","577"],["dc.bibliographiccitation.volume","14"],["dc.contributor.author","Neusch, C."],["dc.contributor.author","Senderek, J."],["dc.contributor.author","Eggermann, T."],["dc.contributor.author","Elolff, E."],["dc.contributor.author","Bähr, M."],["dc.contributor.author","Schneider-Gold, C."],["dc.date.accessioned","2017-09-07T11:49:48Z"],["dc.date.available","2017-09-07T11:49:48Z"],["dc.date.issued","2007"],["dc.description.abstract","Charcot-Marie-Tooth disease (CMT) has been classified into two types: demyelinating forms (CMT1) and axonal forms (CMT2). Mutations in the CMT2A locus have been linked to the KIF1B and the mitofusin 2 (MFN2) genes. Here, we report a German patient with CMT2 with an underlying spontaneous mutation (c.281G -> A) in the MFN2 gene. Clinically, the patient presented with early-onset CMT that was not associated with additional central nervous system pathology. The disease course was rapidly progressive in the first years and slowed afterwards. We also suggest that single patients with early-onset axonal polyneuropathies should be screened for MFN2 mutations."],["dc.identifier.doi","10.1111/j.1468-1331.2006.01688.x"],["dc.identifier.gro","3143505"],["dc.identifier.isi","000245604500025"],["dc.identifier.pmid","17437620"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1027"],["dc.language.iso","en"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","1351-5101"],["dc.title","Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","833"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","ARCHIVES OF NEUROLOGY"],["dc.bibliographiccitation.lastpage","838"],["dc.bibliographiccitation.volume","63"],["dc.contributor.author","Hedrich, K."],["dc.contributor.author","Hagenah, Johann M."],["dc.contributor.author","Djarmati, A."],["dc.contributor.author","Hiller, A."],["dc.contributor.author","Lohnau, T."],["dc.contributor.author","Lasek, K."],["dc.contributor.author","Grunewald, A."],["dc.contributor.author","Hilker, Ruediger"],["dc.contributor.author","Steinlechner, S."],["dc.contributor.author","Boston, H."],["dc.contributor.author","Kock, N."],["dc.contributor.author","Schneider-Gold, C."],["dc.contributor.author","Kress, W."],["dc.contributor.author","Siebner, Hartwig Roman"],["dc.contributor.author","Binkofski, F."],["dc.contributor.author","Lencer, R."],["dc.contributor.author","Munchau, A."],["dc.contributor.author","Klein, C."],["dc.date.accessioned","2018-11-07T09:42:59Z"],["dc.date.available","2018-11-07T09:42:59Z"],["dc.date.issued","2006"],["dc.description.abstract","Background: Although homozygous mutations in the PTEN-induced putative kinase 1 (PINK1) gene have been unequivocally associated with early-onset Parkinson disease (PD), the role of single heterozygous PINK1 mutations is less clear. Objective: To investigate the role of homozygous and heterozygous PINK1 mutations in a large German pedigree (family W). Design: Mutation analysis of PINK1 and results of standardized neurological and motor examination by 3 independent movement disorder specialists, including blinded video rating. Settings: University of Lubeck. Participants: Twenty family members. Main Outcome Measures: The PINK1 genotype and PD status of all family members. Results: The index patient of family W carried a homozygous nonsense mutation (c.1366C > T; p.Q456X) and presented with a phenotype closely resembling idiopathic PD but with an onset at 39 years of age. The family included a total of 4 affected homozygous members (age, 60-71 years; age at onset, 39-61 years), 6 members with slight or mild signs of PD (affected) and a heterozygous mutation (age, 31-49 years), and 5 unaffected heterozygous mutation carriers (age, 34-44 years). Although none of the heterozygous affected family members was aware of their signs (asymptomatic), the clinical findings were unequivocal and predominantly or exclusively present on their dominant right-hand side, eg, unilaterally reduced or absent arm swing and unilateral rigidity. The heterozygous members were all considerably younger than the affected homozygous mutation carriers. Conclusions: Heterozygous PINK1 mutations may predispose to PD, as was previously suggested by the presence of dopamine hypometabolism in asymptomatic mutation carriers. Long-term follow-up of our large family W provides an excellent opportunity to further evaluate the role of single heterozygous PINK1 mutations later in life, which will have major implications on genetic counseling."],["dc.identifier.doi","10.1001/archneur.63.6.833"],["dc.identifier.isi","000238197600006"],["dc.identifier.pmid","16769864"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/34080"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Amer Medical Assoc"],["dc.relation.issn","0003-9942"],["dc.title","Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease Role of a single hit?"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]