902 results on '"Voit, Thomas"'
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152. Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers
153. Evaluating the effect of long-term idebenone treatment on respiratory morbidity in patients with Duchenne muscular dystrophy (DMD)
154. TANDEM DUPLICATION OF DMD EXON 18 ASSOCIATED WITH EPILEPSY, MACROGLOSSIA, AND ENDOCRINOLOGIC ABNORMALITIES
155. X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes
156. Messgenauigkeit eines rtCGM Systems und Glukometers während kardio-pulmonaler Ausbelastungstests bei Kindern und Jugendlichen mit Diabetes Mellitus Typ 1 – eine präliminäre explorative Analyse der InLoopChild Studie.
157. IPPB-Assisted Coughing in Neuromuscular Disorders
158. Spectrum of Brain Changes in Patients With Congenital Muscular Dystrophy and FKRP Gene Mutations
159. Hyperintense lesions of the globus pallidus on MRI in children with chronic liver disease
160. Sleep disordered breathing in spinal muscular atrophy
161. Albumin targeting of damaged muscle fibres in the mdx mouse can be monitored by MRI
162. The congenital muscular dystrophies in 2004: a century of exciting progress
163. Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome
164. Co-localization of fukutin and α-dystroglycan in the mouse central nervous system
165. Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies
166. β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities
167. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan
168. Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased α7 integrin, utrophin and associated glycoproteins
169. Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease
170. Airway nitric oxide in Duchenne muscular dystrophy
171. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
172. Progressive dystonia in a 12-year-old boy
173. Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders
174. Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport?
175. Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents
176. Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy
177. Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders
178. Longitudinal ambulatory measurements of gait abnormality in dystrophin-deficient dogs
179. Case 30-1997: Pulmonary Interstitial Emphysema in Infancy
180. Deficiency of α-Dystroglycan in Muscle–Eye–Brain Disease
181. Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
182. Nächtliche nichtinvasive Beatmung bei Kindern und Jugendlichen mit neuromuskulären Erkrankungen: Einfluss auf Schlaf und Symptome
183. Hepatoblastoma in a 2-year-old child of a liver-transplanted mother
184. Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
185. Serum Antibodies to the Deleted Dystrophin Sequence after Cardiac Transplantation in a Patient with Becker's Muscular Dystrophy
186. Morphogenesis of primary human biliary epithelial cells: Induction in high-density culture or by coculture with autologous human hepatocytes
187. Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1
188. Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene
189. Mutations in the Fukutin-Related Protein Gene ( FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan
190. Nachweis und Lokalisation von Photosensibilisatoren bei der photodynamischen Inaktivierung von Candida albicans
191. Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1
192. Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42
193. Acute liver failure associated with Coxsackie virus B2 infection in a neonate
194. Home-based versus hospital monitoring of respiratory function changes in Duchenne muscular dystrophy (DMD)
195. Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30–31 January 2017
196. Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients
197. Golodirsen Induces Exon Skipping Leading to Sarcolemmal Dystrophin Expression in Duchenne Muscular Dystrophy Patients With Mutations Amenable to Exon 53 Skipping (S22.001)
198. Einfluss von kohlenhydrat- und fettreichen Mahlzeiten mit und ohne anschließende physische Aktivität auf den Blutglukoseverlauf bei Menschen mit Typ 2 Diabetes. Eine randomisierte, kontrollierte Crossover-Studie.
199. Sicherheit und Effizienz des mylife CamAPS FX Hybrid Closed-Loop Systems während maximaler Ausbelastungstests bei Kindern und Jugendlichen mit Diabetes Mellitus Typ 1: eine explorative präliminäre Analyse der InLoopChild Studie.
200. Einfluss von sedentärem Verhalten versus physische Aktivität auf den Glukosestoffwechsel bei Personen mit Übergewicht/Adipositas – eine randomisierte kontrollierte Cross-Over-Studie (SEDAKT).
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