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Results: 1-25 | 26-50 | 51-75 | 76-96 |
Results: 76-96/96
LEIGH-SYNDROME AND HYPERTROPHIC CARDIOMYOPATHY IN AN INFANT WITH A MITOCHONDRIAL-DNA POINT MUTATION (T8993G)
Authors: PASTORES GM SANTORELLI FM SHANSKE S GELB BD FYFE B WOLFE D WILLNER JP
Citation: Gm. Pastores et al., LEIGH-SYNDROME AND HYPERTROPHIC CARDIOMYOPATHY IN AN INFANT WITH A MITOCHONDRIAL-DNA POINT MUTATION (T8993G), American journal of medical genetics, 50(3), 1994, pp. 265-271
MITOCHONDRIAL-DNA DELETION - A CAUSE OF CHRONIC TUBULOINTERSTITIAL NEPHROPATHY
Authors: SZABOLCS MJ SEIGLE R SHANSKE S BONILLA E DIMAURO S DAGATI V
Citation: Mj. Szabolcs et al., MITOCHONDRIAL-DNA DELETION - A CAUSE OF CHRONIC TUBULOINTERSTITIAL NEPHROPATHY, Kidney international, 45(5), 1994, pp. 1388-1396
PHOSPHOGLYCERATE KINASE-DEFICIENCY - REPLY
Authors: TONIN P SHANSKE S TSUJINO S DIMAURO S
Citation: P. Tonin et al., PHOSPHOGLYCERATE KINASE-DEFICIENCY - REPLY, Neurology, 44(7), 1994, pp. 1365-1365
A T-]C MUTATION AT NT-8993 OF MITOCHONDRIAL-DNA IN A CHILD WITH LEIGH-SYNDROME
Authors: SANTORELLI FM SHANSKE S JAIN KD TICK D SCHON EA DIMAURO S
Citation: Fm. Santorelli et al., A T-]C MUTATION AT NT-8993 OF MITOCHONDRIAL-DNA IN A CHILD WITH LEIGH-SYNDROME, Neurology, 44(5), 1994, pp. 972-974
MITOCHONDRIAL-DNA DELETIONS IN PATIENTS WITH INCLUSION-BODY MYOSITIS
Authors: SANTORELLI FM SCIACCO M SHANSKE S GRIGGS RC MENDELL JR BONILLA E DIMAURO S
Citation: Fm. Santorelli et al., MITOCHONDRIAL-DNA DELETIONS IN PATIENTS WITH INCLUSION-BODY MYOSITIS, Neurology, 44(4), 1994, pp. 10000131-10000131
ATP SYNTHESIS IN FIBROBLASTS FROM PATIENTS WITH MATERNALLY INHERITED LEIGH-SYNDROME
Authors: VAZQUEZMEMIJE ME SANTORELLI FM SHANSKE S KRANZEBLE P DEVIVO DC DIMAURO S
Citation: Me. Vazquezmemije et al., ATP SYNTHESIS IN FIBROBLASTS FROM PATIENTS WITH MATERNALLY INHERITED LEIGH-SYNDROME, Neurology, 44(4), 1994, pp. 10000208-10000208
MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN ITALIAN PATIENTS
Authors: MARTINUZZI A TSUJINO S BARTOLONI L CARROZZO R SHANSKE S DIMAURO S ANGELINI C
Citation: A. Martinuzzi et al., MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN ITALIAN PATIENTS, Neurology, 44(4), 1994, pp. 10000284-10000285
2 NOVEL MUTATIONS IN CAUCASIAN PATIENTS WITH MUSCLE LACTATE-DEHYDROGENASE (LDH-A) DEFICIENCY
Authors: TSUJINO S SHANSKE S BROWNELL AKW HALLER RG DIMAURO S
Citation: S. Tsujino et al., 2 NOVEL MUTATIONS IN CAUCASIAN PATIENTS WITH MUSCLE LACTATE-DEHYDROGENASE (LDH-A) DEFICIENCY, Neurology, 44(4), 1994, pp. 10000286-10000286
MITOCHONDRIAL-DNA DEPLETION - AN AUTOSOMAL RECESSIVE, TISSUE-SPECIFICDISORDER
Authors: SHANSKE S DANON MJ BONILLA E CASALI C MORAES CT GRIFFIN A DIMAURO S
Citation: S. Shanske et al., MITOCHONDRIAL-DNA DEPLETION - AN AUTOSOMAL RECESSIVE, TISSUE-SPECIFICDISORDER, Neurology, 44(4), 1994, pp. 10000403-10000403
CLINICAL AND BIOCHEMICAL FEATURES OF 10 ADULT PATIENTS WITH MUSCLE PHOSPHORYLASE-KINASE DEFICIENCY
Authors: WILKINSON DA TONIN P SHANSKE S LOMBES A CARLSON GM DIMAURO S
Citation: Da. Wilkinson et al., CLINICAL AND BIOCHEMICAL FEATURES OF 10 ADULT PATIENTS WITH MUSCLE PHOSPHORYLASE-KINASE DEFICIENCY, Neurology, 44(3), 1994, pp. 461-466
DEMENTIA OF ADULT POLYGLUCOSAN BODY DISEASE - EVIDENCE OF CORTICAL AND SUBCORTICAL DYSFUNCTION
Authors: RIFAI Z KLITZKE M TAWIL R KAZEE AM SHANSKE S DIMAURO S GRIGGS RC
Citation: Z. Rifai et al., DEMENTIA OF ADULT POLYGLUCOSAN BODY DISEASE - EVIDENCE OF CORTICAL AND SUBCORTICAL DYSFUNCTION, Archives of neurology, 51(1), 1994, pp. 90-94
IDENTIFICATION OF 3 NOVEL MUTATIONS IN NON-ASHKENAZI ITALIAN PATIENTSWITH MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
Authors: TSUJINO S SERVIDEI S TONIN P SHANSKE S AZAN G DIMAURO S
Citation: S. Tsujino et al., IDENTIFICATION OF 3 NOVEL MUTATIONS IN NON-ASHKENAZI ITALIAN PATIENTSWITH MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY, American journal of human genetics, 54(5), 1994, pp. 812-819
3 NEW MUTATIONS IN PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLEDISEASE)
Authors: TSUJINO S SHANSKE S NONAKA I ETO Y MENDELL JR FENICHEL GM DIMAURO S
Citation: S. Tsujino et al., 3 NEW MUTATIONS IN PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLEDISEASE), American journal of human genetics, 54(1), 1994, pp. 44-52
THE MUTATION AT NT-8993 OF MITOCHONDRIAL-DNA IS A COMMON-CAUSE OF LEIGHS SYNDROME
Authors: SANTORELLI FM SHANSKE S MACAYA A DEVIVO DC DIMAURO S
Citation: Fm. Santorelli et al., THE MUTATION AT NT-8993 OF MITOCHONDRIAL-DNA IS A COMMON-CAUSE OF LEIGHS SYNDROME, Annals of neurology, 34(6), 1993, pp. 827-834
PHENOTYPIC HETEROGENEITY IN FAMILIES WITH THE MYOCLONIC EPILEPSY AND RAGGED-RED FIBER DISEASE POINT MUTATION IN MITOCHONDRIAL-DNA
Authors: GRAF WD SUMI SM COPASS MK OJEMANN LM LONGSTRETH WT SHANSKE S LOMBES A DIMAURO S
Citation: Wd. Graf et al., PHENOTYPIC HETEROGENEITY IN FAMILIES WITH THE MYOCLONIC EPILEPSY AND RAGGED-RED FIBER DISEASE POINT MUTATION IN MITOCHONDRIAL-DNA, Annals of neurology, 33(6), 1993, pp. 640-645
MOLECULAR-GENETIC HETEROGENEITY OF MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE)
Authors: TSUJINO S SHANSKE S DIMAURO S
Citation: S. Tsujino et al., MOLECULAR-GENETIC HETEROGENEITY OF MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE), The New England journal of medicine, 329(4), 1993, pp. 241-245
CLINICAL-FEATURES ASSOCIATED WITH THE A-]G TRANSITION AT NUCLEOTIDE-8344 OF MTDNA (MERRF MUTATION)
Authors: SILVESTRI G CIAFALONI E SANTORELLI FM SHANSKE S SERVIDEI S GRAF WD SUMI M DIMAURO S
Citation: G. Silvestri et al., CLINICAL-FEATURES ASSOCIATED WITH THE A-]G TRANSITION AT NUCLEOTIDE-8344 OF MTDNA (MERRF MUTATION), Neurology, 43(6), 1993, pp. 1200-1206
A NEW MTDNA MUTATION IN THE ATPASE-6 GENE IN A CHILD WITH LEIGH SYNDROME
Authors: SANTORELLI FM SHANSKE S JAIN KD TICK D DIMAURO S
Citation: Fm. Santorelli et al., A NEW MTDNA MUTATION IN THE ATPASE-6 GENE IN A CHILD WITH LEIGH SYNDROME, Neurology, 43(4), 1993, pp. 171-171
MOLECULAR-BASIS OF MUSCLE PHOSPHOGLYCERATE MUTASE (PGAM-M) DEFICIENCYIN AN ITALIAN KINDRED
Authors: TOSCANO A TSUJINO S VITA G SHANSKE S DIMAURO S MESSINA C
Citation: A. Toscano et al., MOLECULAR-BASIS OF MUSCLE PHOSPHOGLYCERATE MUTASE (PGAM-M) DEFICIENCYIN AN ITALIAN KINDRED, Neurology, 43(4), 1993, pp. 279-279
MOLECULAR-BASIS OF MYOPHOSPHORYLASE DEFICIENCY (MCARDLES DISEASE)
Authors: TSUJINO S SHANSKE S DIMAURO S
Citation: S. Tsujino et al., MOLECULAR-BASIS OF MYOPHOSPHORYLASE DEFICIENCY (MCARDLES DISEASE), Neurology, 43(4), 1993, pp. 279-279
A NEW MTDNA MUTATION IN THE TRANSFER RNA(LEU(UUR) GENE ASSOCIATED WITH CARDIOMYOPATHY AND RAGGED-RED FIBERS
Authors: SILVESTRI G SHANSKE S WHITLEY CB SCHIMMENTI LA SMITH SA DIMAURO S
Citation: G. Silvestri et al., A NEW MTDNA MUTATION IN THE TRANSFER RNA(LEU(UUR) GENE ASSOCIATED WITH CARDIOMYOPATHY AND RAGGED-RED FIBERS, Neurology, 43(4), 1993, pp. 402-402
Risultati: 1-25 | 26-50 | 51-75 | 76-96 |