WorldCat Identities

Maier, Oliver

Overview
Works: 21 works in 31 publications in 2 languages and 67 library holdings
Genres: Academic theses 
Roles: Author, Contributor
Publication Timeline
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Most widely held works by Oliver Maier
Elektromagnetisch verstellbarer sekundärgeregelter Hydraulikantrieb mit Fuzzy-Regelung by Oliver Maier( )

3 editions published in 1998 in German and held by 18 WorldCat member libraries worldwide

Umfassendes Qualitätsmanagement in der stationären Psychiatrie Einführung in Programme, Methoden und Erfahrungen aus einem psychiatrischen Modellverbund by Oliver Maier( Book )

2 editions published in 1999 in German and held by 12 WorldCat member libraries worldwide

Biogenese der Peroxisomen zellbiologische Untersuchungen in der Rattenleber am Modell der Hypothyreose, Hypothyreose plus T3 by Oliver Maier( Book )

4 editions published in 1994 in German and held by 7 WorldCat member libraries worldwide

The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood by Jan Henje Döring( )

1 edition published in 2020 in English and held by 2 WorldCat member libraries worldwide

Abstract: Pathogenic variants in PRRT2, encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed at delineating the broad clinical spectrum of PRRT2-associated phenotypes in these children and their relatives. Only a few recent larger cohort studies are on record and findings from single reports were not confirmed so far. We collected detailed genetic and phenotypic data of 40 previously unreported patients from 36 families. All patients had benign infantile epilepsy and harbored pathogenic variants in PRRT2 (core cohort). Clinical data of 62 family members were included, comprising a cohort of 102 individuals (extended cohort) with PRRT2-associated neurological disease. Additional phenotypes in the cohort of patients with benign sporadic and familial infantile epilepsy consist of movement disorders with paroxysmal kinesigenic dyskinesia in six patients, infantile-onset movement disorders in 2 of 40 individuals, and episodic ataxia after mild head trauma in one girl with bi-allelic variants in PRRT2. The same girl displayed a focal cortical dysplasia upon brain imaging. Familial hemiplegic migraine and migraine with aura were reported in nine families. A single individual developed epilepsy with continuous spikes and waves during sleep. In addition to known variants, we report the novel variant c.843G>T, p.(Trp281Cys) that co-segregated with benign infantile epilepsy and migraine in one family. Our study highlights the variability of clinical presentations of patients harboring pathogenic PRRT2 variants and expands the associated phenotypic spectrum
SCN1A Does Not Determine Seizure Duration in Children Unaffected by Dravet's Syndrome( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Fresenius, FMC : back on schedule by Oliver Maier( Book )

1 edition published in 1998 in German and held by 1 WorldCat member library worldwide

BB Medtech : dreizehn auf einen Streich( Book )

1 edition published in 1998 in German and held by 1 WorldCat member library worldwide

Die Landesgartenschau 1996 in Amberg und ihre wirtschaftlichen Auswirkungen by Oliver Maier( Book )

1 edition published in 1997 in German and held by 1 WorldCat member library worldwide

Total quality management in der stationären Psychiatrie by Oliver Maier( Book )

1 edition published in 1999 in German and held by 1 WorldCat member library worldwide

Qiagen N.V. Biotech-Zulieferer - imposant und markant!( Book )

1 edition published in 1998 in German and held by 1 WorldCat member library worldwide

Schering : Aussichten für 1999 bestätigen positive Haltung( Book )

1 edition published in 1999 in German and held by 1 WorldCat member library worldwide

Aventis Hoechst und Rhône-Poulenc: eins und eins macht drei by Sue Lace( Book )

1 edition published in 1999 in German and held by 1 WorldCat member library worldwide

STXBP1 encephalopathy( )

1 edition published in 2016 in English and held by 1 WorldCat member library worldwide

Abstract : Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1 -E) by systematically reviewing newly diagnosed and previously reported patients. Methods: We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review the phenotypes of all previously reported patients. Results: We describe the phenotypic features of 147 patients with STXBP1 -E including 45 previously unreported patients with 33 novel STXBP1 mutations. All patients have intellectual disability (ID), which is mostly severe to profound (88%). Ninety-five percent of patients have epilepsy. While one-third of patients presented with Ohtahara syndrome (21%) or West syndrome (9.5%), the majority has a nonsyndromic early-onset epilepsy and encephalopathy (53%) with epileptic spasms or tonic seizures as main seizure type. We found no correlation between severity of seizures and severity of ID or between mutation type and seizure characteristics or cognitive outcome. Neurologic comorbidities including autistic features and movement disorders are frequent. We also report 2 previously unreported adult patients with prominent extrapyramidal features. Conclusion: De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy. Most patients have severe to profound ID with little correlation among seizure onset, seizure severity, and the degree of ID. Accordingly, we hypothesize that seizure severity and ID present 2 independent dimensions of the STXBP1 -E phenotype. STXBP1 -E may be conceptualized as a complex neurodevelopmental disorder rather than a primary epileptic encephalopathy
Schering AG : Ergebnisschub ab 2000( Book )

1 edition published in 1999 in German and held by 1 WorldCat member library worldwide

Fresenius/FMC : FMC + Restgeschäft = eine starke Kombination( Book )

1 edition published in 1998 in German and held by 1 WorldCat member library worldwide

In-depth analysis of bicycle hydraulic disc brakes( )

1 edition published in 2017 in English and held by 1 WorldCat member library worldwide

Highlights: Generic simulation model of hydraulic disc brakes on bicycles. Comprehensive parameter research. Modular test bench for model validation and further research. Identification of most influencing factors on transmission behavior. Abstract: Hydraulic Disc Brakes (HDBs) represent the most recent and innovative bicycle braking system. Especially Electric Bicycles (EBs), which are becoming more and more popular, are equipped with this powerful, unaffected by environmental influences, and low-wear type of brakes. As a consequence of the high braking performance, typical bicycle braking errors lead to more serious accidents. This is the starting point for the development of a Braking Dynamics Assistance system (BDA) to prevent front wheel lockup and nose-over (falling over the handlebars). One of the essential prerequisites for the system design is a better understanding of bicycle HDBs' characteristics. A physical simulation model and a test bench have been built for this purpose. The results of the virtual and real experiments conducted show a high correlation and allow valuable insights into HDBs on bicycles, which have not been studied scientifically in any depth so far
FMC : back on track II by Oliver Maier( Book )

1 edition published in 1999 in German and held by 1 WorldCat member library worldwide

Degussa-Hüls : ein neuer Chemiegigant ist geboren by Lutz Grüten( Book )

1 edition published in 1999 in German and held by 1 WorldCat member library worldwide

MWG-Biotech AG : die Sprache der Gene by Oliver Maier( Book )

1 edition published in 1999 in German and held by 1 WorldCat member library worldwide

 
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Audience Level
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  Kids General Special  
Audience level: 0.92 (from 0.86 for SCN1A Does ... to 0.97 for Autoreakti ...)

Languages
German (26)

English (4)