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Results: 1-18 |
Results: 18
IDENTICAL MITOCHONDRIAL-DNA IN MONOZYGOTIC TWINS WITH DISCORDANT ADRENOLEUKODYSTROPHY PHENOTYPE
Authors: WILICHOWSKI E OHLENBUSCH A KORENKE GC HUNNEMAN DH HANEFELD F
Citation: E. Wilichowski et al., IDENTICAL MITOCHONDRIAL-DNA IN MONOZYGOTIC TWINS WITH DISCORDANT ADRENOLEUKODYSTROPHY PHENOTYPE, Annals of neurology, 43(6), 1998, pp. 835-836
CHARACTERIZATION OF THE MITOCHONDRIAL GENOME IN CHILDHOOD MULTIPLE-SCLEROSIS - I - OPTIC NEURITIS AND LHON MUTATIONS
Authors: OHLENBUSCH A WILICHOWSKI E HANEFELD F
Citation: A. Ohlenbusch et al., CHARACTERIZATION OF THE MITOCHONDRIAL GENOME IN CHILDHOOD MULTIPLE-SCLEROSIS - I - OPTIC NEURITIS AND LHON MUTATIONS, Neuropediatrics, 29(4), 1998, pp. 175-179
PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY AND ALTERED RESPIRATORY-CHAIN FUNCTION IN A PATIENT WITH KEARNS-SAYRE MELAS OVERLAP SYNDROME AND A3243G MTDNA MUTATION/
Authors: WILICHOWSKI E KORENKE GC RUITENBEEK W DEMEIRLEIR L HAGENDORFF A JANSSEN AJM LISSENS W HANEFELD F
Citation: E. Wilichowski et al., PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY AND ALTERED RESPIRATORY-CHAIN FUNCTION IN A PATIENT WITH KEARNS-SAYRE MELAS OVERLAP SYNDROME AND A3243G MTDNA MUTATION/, Journal of the neurological sciences, 157(2), 1998, pp. 206-213
S-1 NUCLEASE HYBRID ANALYSIS OF MITOCHONDRIAL-DNA AMPLIFIED BY LONG-DISTANCE PCR - RAPID SCREENING FOR SMALL-SCALE REARRANGEMENTS
Authors: LUNDIN K WILICHOWSKI E ERNST BP HANEFELD F
Citation: K. Lundin et al., S-1 NUCLEASE HYBRID ANALYSIS OF MITOCHONDRIAL-DNA AMPLIFIED BY LONG-DISTANCE PCR - RAPID SCREENING FOR SMALL-SCALE REARRANGEMENTS, Nucleic acids research, 25(12), 1997, pp. 2535-2536
HYPOPARATHYROIDISM AND DEAFNESS ASSOCIATED WITH PLEIOPLASMIC LARGE-SCALE REARRANGEMENTS OF THE MITOCHONDRIAL-DNA - A CLINICAL AND MOLECULAR-GENETIC STUDY OF 4 CHILDREN WITH KEARNS-SAYRE-SYNDROME
Authors: WILICHOWSKI E GRUTERS A KRUSE K RATING D BEETZ R KORENKE GC ERNST BP CHRISTEN HJ HANEFELD F
Citation: E. Wilichowski et al., HYPOPARATHYROIDISM AND DEAFNESS ASSOCIATED WITH PLEIOPLASMIC LARGE-SCALE REARRANGEMENTS OF THE MITOCHONDRIAL-DNA - A CLINICAL AND MOLECULAR-GENETIC STUDY OF 4 CHILDREN WITH KEARNS-SAYRE-SYNDROME, Pediatric research, 41(2), 1997, pp. 193-200
ANALYSIS OF TRANSMITOCHONDRIAL CELL-LINES CONTAINING PARTIALLY DUPLICATED MTDNAS ASSOCIATED WITH KEARNS-SAYRE-SYNDROME
Authors: TANG YY SCHON EA DAVISION E WILICHOWSKI E KING MP
Citation: Yy. Tang et al., ANALYSIS OF TRANSMITOCHONDRIAL CELL-LINES CONTAINING PARTIALLY DUPLICATED MTDNAS ASSOCIATED WITH KEARNS-SAYRE-SYNDROME, Neurology, 48(3), 1997, pp. 4079-4079
HYPOPARATHYROIDISM IN COMBINATION WITH SE NSORNEURAL DEAFNESS
Authors: BEETZ R ZOROWKA P SCHONBERGER W KRUSE K WILICHOWSKI E ZABEL B MANNHARDT W SCHUMACHER R
Citation: R. Beetz et al., HYPOPARATHYROIDISM IN COMBINATION WITH SE NSORNEURAL DEAFNESS, Monatsschrift fur Kinderheilkunde, 145(4), 1997, pp. 347-352
DRUG AND DIETARY THERAPY IN MITOCHONDRIAL CYTOPATHIES OF CHILDHOOD
Authors: WILICHOWSKI E KORENKE GC CHRISTEN HJ WAGNER M RATING D HANEFELD F
Citation: E. Wilichowski et al., DRUG AND DIETARY THERAPY IN MITOCHONDRIAL CYTOPATHIES OF CHILDHOOD, Monatsschrift fur Kinderheilkunde, 145(1), 1997, pp. 5
FATAL PSEUDALLESCHERIA-BOYDII PANENCEPHALITIS IN A CHILD AFTER NEAR-DROWNING
Authors: WILICHOWSKI E CHRISTEN HJ SCHIFFMANN H SCHULZSCHAEFFER W BEHRENSBAUMANN W
Citation: E. Wilichowski et al., FATAL PSEUDALLESCHERIA-BOYDII PANENCEPHALITIS IN A CHILD AFTER NEAR-DROWNING, The Pediatric infectious disease journal, 15(4), 1996, pp. 365-370
CEREBRAL ADRENOLEUKODYSTROPHY (ALD) IN ONLY ONE OF MONOZYGOTIC TWINS WITH AN IDENTICAL ALD GENOTYPE
Authors: KORENKE GC FUCHS S KRASEMANN E DOERR HG WILICHOWSKI E HUNNEMAN DH HANEFELD F
Citation: Gc. Korenke et al., CEREBRAL ADRENOLEUKODYSTROPHY (ALD) IN ONLY ONE OF MONOZYGOTIC TWINS WITH AN IDENTICAL ALD GENOTYPE, Annals of neurology, 40(2), 1996, pp. 254-257
BENIGN ADIPIC ACIDURIA
Authors: HUNNEMAN DH WILICHOWSKI E HANEFELD F
Citation: Dh. Hunneman et al., BENIGN ADIPIC ACIDURIA, Lancet, 347(9017), 1996, pp. 1772-1773
CEREBRAL PSEUDALLESCHERIA MYCOSIS AFTER NEAR-DROWNING
Authors: RUCHEL R WILICHOWSKI E
Citation: R. Ruchel et E. Wilichowski, CEREBRAL PSEUDALLESCHERIA MYCOSIS AFTER NEAR-DROWNING, Mycoses, 38(11-12), 1995, pp. 473-475
FAMILIAL DYSTONIC DISTURBANCE OF MOVEMENT S IN LEIGHS SYNDROME
Authors: TREIBERHELD S WILICHOWSKI E ERNST BP SEEMAN P CHRISTEN HH HANEFELD F
Citation: S. Treiberheld et al., FAMILIAL DYSTONIC DISTURBANCE OF MOVEMENT S IN LEIGHS SYNDROME, Aktuelle Neurologie, 22(1), 1995, pp. 17-23
DELETION SCREENING OF MITOCHONDRIAL-DNA VIA MULTIPRIMER DNA AMPLIFICATION
Authors: ERNST BP WILICHOWSKI E WAGNER M HANEFELD F
Citation: Bp. Ernst et al., DELETION SCREENING OF MITOCHONDRIAL-DNA VIA MULTIPRIMER DNA AMPLIFICATION, Molecular and cellular probes, 8(1), 1994, pp. 45-49
LEBERS HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL-DNA MUTATIONS IN CHILDHOOD MULTIPLE-SCLEROSIS
Authors: HANEFELD FA ERNST BP WILICHOWSKI E CHRISTEN HJ
Citation: Fa. Hanefeld et al., LEBERS HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL-DNA MUTATIONS IN CHILDHOOD MULTIPLE-SCLEROSIS, Neuropediatrics, 25(6), 1994, pp. 331-331
PROGRESSIVE NEURONAL DEGENERATION OF CHIL DHOOD WITH LIVER-DISEASE (MORBUS ALPERS)
Authors: MOLLER P CHRISTEN HJ WILICHOWSKI E HANEFELD F
Citation: P. Moller et al., PROGRESSIVE NEURONAL DEGENERATION OF CHIL DHOOD WITH LIVER-DISEASE (MORBUS ALPERS), Monatsschrift fur Kinderheilkunde, 142(11), 1994, pp. 863-867
PROTON SPECTROSCOPY IN PATIENTS WITH LEIGHS DISEASE AND MITOCHONDRIALENZYME DEFICIENCY
Authors: KRUSE B HANEFELD F HOLZBACH U WILICHOWSKI E CHRISTEN HJ MERBOLDT KD HANICKE W FRAHM J
Citation: B. Kruse et al., PROTON SPECTROSCOPY IN PATIENTS WITH LEIGHS DISEASE AND MITOCHONDRIALENZYME DEFICIENCY, Developmental Medicine and Child Neurology, 36(9), 1994, pp. 839-840
DIFFUSE WHITE-MATTER DISEASE IN 3 CHILDREN - AN ENCEPHALOPATHY WITH UNIQUE FEATURES ON MAGNETIC-RESONANCE-IMAGING AND PROTON MAGNETIC-RESONANCE SPECTROSCOPY
Authors: HANEFELD F HOLZBACH U KRUSE B WILICHOWSKI E CHRISTEN HJ FRAHM J
Citation: F. Hanefeld et al., DIFFUSE WHITE-MATTER DISEASE IN 3 CHILDREN - AN ENCEPHALOPATHY WITH UNIQUE FEATURES ON MAGNETIC-RESONANCE-IMAGING AND PROTON MAGNETIC-RESONANCE SPECTROSCOPY, Neuropediatrics, 24(5), 1993, pp. 244-248
Risultati: 1-18 |