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Results: 1-25 | 26-38
Results: 1-25/38
TAU-CYTOPATHOLOGY IN A PATIENT WITH FAMILIAL EARLY-ONSET DEMENTIA
Authors: GEARING M LEVEY AI JONES R WALTON W SHOFFNER JM SCHMIDT ML TROJANOWSKI JO GHETTI B MIRRA SS
Citation: M. Gearing et al., TAU-CYTOPATHOLOGY IN A PATIENT WITH FAMILIAL EARLY-ONSET DEMENTIA, Journal of neuropathology and experimental neurology, 57(5), 1998, pp. 160-160
STRABISMUS AND MITOCHONDRIAL DEFECTS IN CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
Authors: SORKIN JA SHOFFNER JM GROSSNIKLAUS HE DRACK AV LAMBERT SR
Citation: Ja. Sorkin et al., STRABISMUS AND MITOCHONDRIAL DEFECTS IN CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, American journal of ophthalmology, 123(2), 1997, pp. 235-242
MARKED INCREASE IN THE NUMBER AND VARIETY OF MITOCHONDRIAL-DNA REARRANGEMENTS IN AGING HUMAN SKELETAL-MUSCLE (VOL 23, PG 4122, 1995)
Authors: MELOV S SHOFFNER JM KAUFMAN A WALLACE DC
Citation: S. Melov et al., MARKED INCREASE IN THE NUMBER AND VARIETY OF MITOCHONDRIAL-DNA REARRANGEMENTS IN AGING HUMAN SKELETAL-MUSCLE (VOL 23, PG 4122, 1995), Nucleic acids research, 24(7), 1996, pp. 1387-1387
USE OF TRANSMITOCHONDRIAL CYBRIDS TO ASSIGN A COMPLEX-I DEFECT TO THEMITOCHONDRIAL DNA-ENCODED NADH DEHYDROGENASE SUBUNIT-6 GENE MUTATION AT NUCLEOTIDE PAIR-14459 THAT CAUSES LEBER HEREDITARY OPTIC NEUROPATHYAND DYSTONIA
Authors: JUN AS TROUNCE IA BROWN MD SHOFFNER JM WALLACE DC
Citation: As. Jun et al., USE OF TRANSMITOCHONDRIAL CYBRIDS TO ASSIGN A COMPLEX-I DEFECT TO THEMITOCHONDRIAL DNA-ENCODED NADH DEHYDROGENASE SUBUNIT-6 GENE MUTATION AT NUCLEOTIDE PAIR-14459 THAT CAUSES LEBER HEREDITARY OPTIC NEUROPATHYAND DYSTONIA, Molecular and cellular biology, 16(3), 1996, pp. 771-777
MITOCHONDRIAL-DNA SEQUENCE-ANALYSIS OF 4 ALZHEIMERS-DISEASE AND PARKINSONS-DISEASE PATIENTS
Authors: BROWN MD SHOFFNER JM KIM YL JUN AS GRAHAM BH CABELL MF GURLEY DS WALLACE DC
Citation: Md. Brown et al., MITOCHONDRIAL-DNA SEQUENCE-ANALYSIS OF 4 ALZHEIMERS-DISEASE AND PARKINSONS-DISEASE PATIENTS, American journal of medical genetics, 61(3), 1996, pp. 283-289
MATERNAL INHERITANCE AND THE EVALUATION OF OXIDATIVE-PHOSPHORYLATION DISEASES
Authors: SHOFFNER JM
Citation: Jm. Shoffner, MATERNAL INHERITANCE AND THE EVALUATION OF OXIDATIVE-PHOSPHORYLATION DISEASES, Lancet, 348(9037), 1996, pp. 1283-1288
OXIDATIVE-PHOSPHORYLATION ENZYME-ACTIVITIES AND MITOCHONDRIAL COENZYME-Q10 DECREASE WITH NORMAL AGING
Authors: KOONTZ DA THOMAS B KAUFMAN A GRAHAM J WALLACE DC SHOFFNER JM
Citation: Da. Koontz et al., OXIDATIVE-PHOSPHORYLATION ENZYME-ACTIVITIES AND MITOCHONDRIAL COENZYME-Q10 DECREASE WITH NORMAL AGING, Neurology, 46(2), 1996, pp. 3007-3007
A MITOCHONDRIAL-DNA MUTATION ASSOCIATED WITH MATERNALLY INHERITED DEAFNESS AND PARKINSONS-DISEASE
Authors: SHOFFNER JM BROWN MD HUOPONEN K STUGARD C KOONTZ D KAUFMAN A GRAHAM J JUNCOS J WATTS RL WALLACE DC
Citation: Jm. Shoffner et al., A MITOCHONDRIAL-DNA MUTATION ASSOCIATED WITH MATERNALLY INHERITED DEAFNESS AND PARKINSONS-DISEASE, Neurology, 46(2), 1996, pp. 31002-31002
COMPLEX I DEFECT ASSIGNED TO THE LEBER HEREDITARY OPTIC NEUROPATHY PLUS DYSTONIA MITOCHONDRIAL-DNA MUTATION AT NUCLEOTIDE PAIR 14,459 THROUGH CYBRID TRANSFER
Authors: BROWN MD JUN AS SHOFFNER JM WALLACE DC
Citation: Md. Brown et al., COMPLEX I DEFECT ASSIGNED TO THE LEBER HEREDITARY OPTIC NEUROPATHY PLUS DYSTONIA MITOCHONDRIAL-DNA MUTATION AT NUCLEOTIDE PAIR 14,459 THROUGH CYBRID TRANSFER, Neurology, 46(2), 1996, pp. 40002-40002
GRANULOCYTE-COLONY-STIMULATING FACTOR AND ERYTHROPOIETIN THERAPY IN PEARSONS SYNDROME
Authors: WALLACE DC FLEMING WH KRAWIECKI N YEAGER AM SHOFFNER JM
Citation: Dc. Wallace et al., GRANULOCYTE-COLONY-STIMULATING FACTOR AND ERYTHROPOIETIN THERAPY IN PEARSONS SYNDROME, Neurology, 46(2), 1996, pp. 60006-60006
INSULIN-RESISTANCE ASSOCIATED WITH MATERNALLY INHERITED DIABETES AND DEAFNESS
Authors: GEBHART SSP SHOFFNER JM KOONTZ D KAUFMAN A WALLACE D
Citation: Ssp. Gebhart et al., INSULIN-RESISTANCE ASSOCIATED WITH MATERNALLY INHERITED DIABETES AND DEAFNESS, Metabolism, clinical and experimental, 45(4), 1996, pp. 526-531
OXIDATIVE-PHOSPHORYLATION DEFECT ASSOCIATED WITH PRIMARY ADRENAL INSUFFICIENCY
Authors: NORTH K KORSON MS KRAWIECKI N SHOFFNER JM HOLM IA
Citation: K. North et al., OXIDATIVE-PHOSPHORYLATION DEFECT ASSOCIATED WITH PRIMARY ADRENAL INSUFFICIENCY, The Journal of pediatrics, 128(5), 1996, pp. 688-692
MITOCHONDRIAL DEFECTS IN BASAL GANGLIA DISEASES
Authors: SHOFFNER JM
Citation: Jm. Shoffner, MITOCHONDRIAL DEFECTS IN BASAL GANGLIA DISEASES, Current opinion in neurology, 8(6), 1995, pp. 474-479
OXIDATIVE-PHOSPHORYLATION DISEASES AND CEREBELLAR-ATAXIA
Authors: SHOFFNER JM KAUFMAN A KOONTZ D KRAWIECKI N SMITH E TOPP M WALLACE DC
Citation: Jm. Shoffner et al., OXIDATIVE-PHOSPHORYLATION DISEASES AND CEREBELLAR-ATAXIA, Clinical neuroscience, 3(1), 1995, pp. 43-53
MITOCHONDRIAL-DNA MUTATIONS IN HUMAN DEGENERATIVE DISEASES AND AGING
Authors: WALLACE DC SHOFFNER JM TROUNCE I BROWN MD BALLINGER SW CORRALDEBRINSKI M HORTON T JUN AS LOTT MT
Citation: Dc. Wallace et al., MITOCHONDRIAL-DNA MUTATIONS IN HUMAN DEGENERATIVE DISEASES AND AGING, Biochimica et biophysica acta. Molecular basis of disease, 1271(1), 1995, pp. 141-151
LEBERS HEREDITARY OPTIC NEUROPATHY PLUS DYSTONIA IS CAUSED BY A MITOCHONDRIAL-DNA POINT MUTATION
Authors: SHOFFNER JM BROWN MD STUGARD C JUN AS POLLOCK S HAAS RH KAUFMAN A KOONTZ D KIM Y GRAHAM JR SMITH E DIXON J WALLACE DC
Citation: Jm. Shoffner et al., LEBERS HEREDITARY OPTIC NEUROPATHY PLUS DYSTONIA IS CAUSED BY A MITOCHONDRIAL-DNA POINT MUTATION, Annals of neurology, 38(2), 1995, pp. 163-169
MARKED INCREASE IN THE NUMBER AND VARIETY OF MITOCHONDRIAL-DNA REARRANGEMENTS IN AGING HUMAN SKELETAL-MUSCLE (VOL 23, PG 4122, 1995)
Authors: MELOV S SHOFFNER JM KAUFMAN A WALLACE DC
Citation: S. Melov et al., MARKED INCREASE IN THE NUMBER AND VARIETY OF MITOCHONDRIAL-DNA REARRANGEMENTS IN AGING HUMAN SKELETAL-MUSCLE (VOL 23, PG 4122, 1995), Nucleic acids research, 23(23), 1995, pp. 4938-4938
MARKED INCREASE IN THE NUMBER AND VARIETY OF MITOCHONDRIAL-DNA REARRANGEMENTS IN AGING HUMAN SKELETAL-MUSCLE
Authors: MELOV S SHOFFNER JM KAUFMAN A WALLACE DC
Citation: S. Melov et al., MARKED INCREASE IN THE NUMBER AND VARIETY OF MITOCHONDRIAL-DNA REARRANGEMENTS IN AGING HUMAN SKELETAL-MUSCLE, Nucleic acids research, 23(20), 1995, pp. 4122-4126
RENAL AMINO-ACID-TRANSPORT IN ADULTS WITH OXIDATIVE-PHOSPHORYLATION DISEASES
Authors: SHOFFNER JM VOLJAVEC AS DIXON J KAUFMAN A WALLACE DC MITCH WE
Citation: Jm. Shoffner et al., RENAL AMINO-ACID-TRANSPORT IN ADULTS WITH OXIDATIVE-PHOSPHORYLATION DISEASES, Kidney international, 47(4), 1995, pp. 1101-1107
MITOCHONDRIAL ENCEPHALOMYOPATHY ASSOCIATED WITH A SINGLE NUCLEOTIDE PAIR DELETION IN THE MITOCHONDRIAL TRNA(LEU(UUR)) GENE
Authors: SHOFFNER JM BIALER MG PAVLAKIS SG LOTT M KAUFMAN A DIXON J TEICHBERG S WALLACE DC
Citation: Jm. Shoffner et al., MITOCHONDRIAL ENCEPHALOMYOPATHY ASSOCIATED WITH A SINGLE NUCLEOTIDE PAIR DELETION IN THE MITOCHONDRIAL TRNA(LEU(UUR)) GENE, Neurology, 45(2), 1995, pp. 286-292
MARKED INCREASE IN MITOCHONDRIAL-DNA DELETION LEVELS IN THE CEREBRAL-CORTEX OF HUNTINGTONS-DISEASE PATIENTS
Authors: HORTON TM GRAHAM BH CORRALDEBRINSKI M SHOFFNER JM KAUFMAN AE BEAL MF WALLACE DC
Citation: Tm. Horton et al., MARKED INCREASE IN MITOCHONDRIAL-DNA DELETION LEVELS IN THE CEREBRAL-CORTEX OF HUNTINGTONS-DISEASE PATIENTS, Neurology, 45(10), 1995, pp. 1879-1883
CYTOPLASMIC TRANSFER OF A COMPLEX-I DEFECT ASSOCIATED WITH THE MITOCHONDRIAL-DNA (MTDNA)-ENCODED ND6 NP-14459 MUTATION CAUSING LEBER HEREDITARY OPTIC NEUROPATHY AND DYSTONIA
Authors: JUN AS TROUNCE IA BROWN MD SHOFFNER JM WALLACE DC
Citation: As. Jun et al., CYTOPLASMIC TRANSFER OF A COMPLEX-I DEFECT ASSOCIATED WITH THE MITOCHONDRIAL-DNA (MTDNA)-ENCODED ND6 NP-14459 MUTATION CAUSING LEBER HEREDITARY OPTIC NEUROPATHY AND DYSTONIA, American journal of human genetics, 57(4), 1995, pp. 108-108
GRANULOCYTE-COLONY-STIMULATING FACTOR (G-CSF) AND ERYTHROPOIETIN (EPO) THERAPY IN PEARSONS SYNDROME (PS)
Authors: SHOFFNER JM FLEMING WH KRAWIECKI N YEAGER AM WALLACE DC
Citation: Jm. Shoffner et al., GRANULOCYTE-COLONY-STIMULATING FACTOR (G-CSF) AND ERYTHROPOIETIN (EPO) THERAPY IN PEARSONS SYNDROME (PS), American journal of human genetics, 57(4), 1995, pp. 1051-1051
MITOCHONDRIAL TRANSFER-RNA MUTATIONS IN PATIENTS WITH NEUROMUSCULAR DISEASES
Authors: HUOPONEN K BROWN MD SHOFFNER JM WALLACE DC
Citation: K. Huoponen et al., MITOCHONDRIAL TRANSFER-RNA MUTATIONS IN PATIENTS WITH NEUROMUSCULAR DISEASES, American journal of human genetics, 57(4), 1995, pp. 1240-1240
MITOCHONDRIAL DIABETES REVISITED
Authors: BALLINGER SW SHOFFNER JM GEBHART S KOONTZ DA WALLACE DC
Citation: Sw. Ballinger et al., MITOCHONDRIAL DIABETES REVISITED, Nature genetics, 7(4), 1994, pp. 458-459
Risultati: 1-25 | 26-38