AAAAAA

   
Results: 1-25 | 26-50 | 51-75 | 76-96
Results: 1-25/96
ENERGY-METABOLISM DEFECTS IN SUDDEN INFANTILE DEATH
Authors: PONS R VILARINHO L BRUNO C SHANSKE S SANTORELLI FM
Citation: R. Pons et al., ENERGY-METABOLISM DEFECTS IN SUDDEN INFANTILE DEATH, European journal of human genetics, 6, 1998, pp. 1001-1001
THE RISING ROLE OF MTDNA MUTATIONS IN LETHAL INFANTILE CARDIOMYOPATHIES
Authors: SANTORELLI FM BRUNO C CASALI C SHANSKE S HIRANO M DIMAURO S
Citation: Fm. Santorelli et al., THE RISING ROLE OF MTDNA MUTATIONS IN LETHAL INFANTILE CARDIOMYOPATHIES, European journal of human genetics, 6, 1998, pp. 4080-4080
G8363A MUTATION IN THE MITOCHONDRIAL-DNA TRNA(LYS) GENE - ANOTHER CAUSE OF LEIGH-SYNDROME
Authors: SHTILBANS A BRUNO C ANDREU AL HADJIGEORGIOU GM SHANSKE S WILT F RIDDICK L THYAGARAJAN D DIMAURO S
Citation: A. Shtilbans et al., G8363A MUTATION IN THE MITOCHONDRIAL-DNA TRNA(LYS) GENE - ANOTHER CAUSE OF LEIGH-SYNDROME, Annals of neurology, 44(3), 1998, pp. 59-59
INFANTILE ENCEPHALOPATHY ASSOCIATED WITH THE MELAS A3243G MUTATION
Authors: SUE CM BRUNO C ANDREU AL CARGAN A MENDELL JR TSAO CY SHANSKE S DIMAURO S DEVIVO DC
Citation: Cm. Sue et al., INFANTILE ENCEPHALOPATHY ASSOCIATED WITH THE MELAS A3243G MUTATION, Annals of neurology, 44(3), 1998, pp. 61-61
A NOVEL MUTATION IN A PATIENT WITH MUSCLE PHOSPHORYLASE-KINASE DEFICIENCY
Authors: BRUNO C MANFREDI G ANDREU AL SHANSKE S KRISHNA S ILSE W DIMAURO S
Citation: C. Bruno et al., A NOVEL MUTATION IN A PATIENT WITH MUSCLE PHOSPHORYLASE-KINASE DEFICIENCY, Annals of neurology, 44(3), 1998, pp. 134-134
A NONSENSE MUTATION (A15059G) IN THE CYTOCHROME-B GENE IN A PATIENT WITH EXERCISE INTOLERANCE AND MYOGLOBINURIA
Authors: ANDREU AL BRUNO C SUE CM TANJI K SHANSKE S KRISHNA S HADJIGEORGIOU GM SHTILBANS A DUNNE TC DIMAURO S
Citation: Al. Andreu et al., A NONSENSE MUTATION (A15059G) IN THE CYTOCHROME-B GENE IN A PATIENT WITH EXERCISE INTOLERANCE AND MYOGLOBINURIA, Annals of neurology, 44(3), 1998, pp. 139-139
STUDY OF MITOCHONDRIAL-DNA DEPLETION IN MUSCLE BY SINGLE-FIBER POLYMERASE-CHAIN-REACTION
Authors: SCIACCO M GASPARORIPPA P VU TH TANJI K SHANSKE S MENDELL JR SCHON EA DIMAURO S BONILLA E
Citation: M. Sciacco et al., STUDY OF MITOCHONDRIAL-DNA DEPLETION IN MUSCLE BY SINGLE-FIBER POLYMERASE-CHAIN-REACTION, Muscle & nerve, 21(11), 1998, pp. 1374-1381
PRIMARY ADRENAL INSUFFICIENCY IN A CHILD WITH A MITOCHONDRIAL-DNA DELETION
Authors: BRUNO C MINETTI C TANG Y MAGALHAES PJ SANTORELLI FM SHANSKE S BADO M CORDONE G GATTI R DIMAURO S
Citation: C. Bruno et al., PRIMARY ADRENAL INSUFFICIENCY IN A CHILD WITH A MITOCHONDRIAL-DNA DELETION, Journal of inherited metabolic disease, 21(2), 1998, pp. 155-161
MISSENSE MUTATION IN THE MTDNA CYTOCHROME-B GENE IN A PATIENT WITH MYOPATHY
Authors: ANDREU AL BRUNO C SHANSKE S SHTILBANS A HIRANO M KRISHNA S HAYWARD L SYSTROM DS BROWN RH DIMAURO S
Citation: Al. Andreu et al., MISSENSE MUTATION IN THE MTDNA CYTOCHROME-B GENE IN A PATIENT WITH MYOPATHY, Neurology, 51(5), 1998, pp. 1444-1447
ASYMPTOMATIC MCARDLES-DISEASE ASSOCIATED WITH HYPER-CREATINE KINASE-EMIA AND ABSENCE OF MYOPHOSPHORYLASE
Authors: GOSPE SM ELSCHAHAWI M SHANSKE S BRUNO C DIMAURO S HOYE E WALSH DA GORIN FA
Citation: Sm. Gospe et al., ASYMPTOMATIC MCARDLES-DISEASE ASSOCIATED WITH HYPER-CREATINE KINASE-EMIA AND ABSENCE OF MYOPHOSPHORYLASE, Neurology, 51(4), 1998, pp. 1228-1229
MOLECULAR-GENETIC ANALYSIS OF MCARDLES-DISEASE IN SPANISH PATIENTS
Authors: ANDREU AL BRUNO C GAMEZ J SHANSKE S CERVERA C NAVARRO C ARBOS MA TAMBURINO L SCHWARTZ S DIMAURO S
Citation: Al. Andreu et al., MOLECULAR-GENETIC ANALYSIS OF MCARDLES-DISEASE IN SPANISH PATIENTS, Neurology, 51(1), 1998, pp. 260-262
CLINICAL MANIFESTATIONS OF MITOCHONDRIAL-DNA DEPLETION
Authors: VU TH SCIACCO M TANJI K NICHTER C BONILLA E CHATKUPT S MAERTENS P SHANSKE S MENDELL J KOENIGSBERGER MR SHARER L SCHON EA DIMAURO S DEVIVO DC
Citation: Th. Vu et al., CLINICAL MANIFESTATIONS OF MITOCHONDRIAL-DNA DEPLETION, Neurology, 50(6), 1998, pp. 1783-1790
A NOVEL G15762A MUTATION IN THE MITOCHONDRIAL CYTOCHROME-B GENE
Authors: ANDREU AL KRISKNA S BRUNO C SHTILBANS A SHANSKE S BROWN RH DIMAURO S
Citation: Al. Andreu et al., A NOVEL G15762A MUTATION IN THE MITOCHONDRIAL CYTOCHROME-B GENE, Neurology, 50(4), 1998, pp. 1044-1044
MOLECULAR-GENETIC ANALYSIS OF MCARDLES-DISEASE IN SPANISH PATIENTS
Authors: GAMEZ J BRUNO C ANDREW AL SHANSKE S CERVERA C NAVARRO C SCHWARTZ S DIMAURO S
Citation: J. Gamez et al., MOLECULAR-GENETIC ANALYSIS OF MCARDLES-DISEASE IN SPANISH PATIENTS, Neurology, 50(4), 1998, pp. 1045-1045
GLYCOGENOSIS CONFINED TO NEURAL TISSUES
Authors: MADRID RE NEUMANN A SHANSKE S DIMAURO S
Citation: Re. Madrid et al., GLYCOGENOSIS CONFINED TO NEURAL TISSUES, Neurology, 50(4), 1998, pp. 6134-6134
MYOCLONUS EPILEPSY WITH RAGGED-RED FIBERS AND MULTIPLE MTDNA DELETIONS
Authors: BLUMENTHAL DT SHANSKE S SCHOCHET SS SANTORELLI FM DIMAURO S JAYNESM M BODENSTEINER J
Citation: Dt. Blumenthal et al., MYOCLONUS EPILEPSY WITH RAGGED-RED FIBERS AND MULTIPLE MTDNA DELETIONS, Neurology, 50(2), 1998, pp. 524-525
COMBINED DEFECTS OF MUSCLE PHOSPHOFRUCTOKINASE AND AMP-DEAMINASE IN ACHILD WITH MYOGLOBINURIA
Authors: BRUNO C MINETTI C SHANSKE S MORREALE G BADO M CORDONE G DIMAURO S
Citation: C. Bruno et al., COMBINED DEFECTS OF MUSCLE PHOSPHOFRUCTOKINASE AND AMP-DEAMINASE IN ACHILD WITH MYOGLOBINURIA, Neurology, 50(1), 1998, pp. 296-298
A SPLICE JUNCTION MUTATION IN THE ALPHA(M) GENE OF PHOSPHORYLASE-KINASE IN A PATIENT WITH MYOPATHY
Authors: BRUNO C MANFREDI G ANDREU AL SHANSKE S KRISHNA S ILSE WK DIMAURO S
Citation: C. Bruno et al., A SPLICE JUNCTION MUTATION IN THE ALPHA(M) GENE OF PHOSPHORYLASE-KINASE IN A PATIENT WITH MYOPATHY, Biochemical and biophysical research communications (Print), 249(3), 1998, pp. 648-651
GLYCOGEN-STORAGE-DISEASE TYPE-II - IDENTIFICATION OF 4 NOVEL MISSENSEMUTATIONS (D645N, G648S, R672W, R672Q) AND 2 INSERTIONS DELETIONS IN THE ACID ALPHA-GLUCOSIDASE LOCUS OF PATIENTS OF DIFFERING PHENOTYPE/
Authors: HUIE ML TSUJINO S BROOKS SS ENGEL A ELIAS E BONTHRON DT BESSLEY C SHANSKE S DIMAURO S GOTO YI HIRSCHHORN R
Citation: Ml. Huie et al., GLYCOGEN-STORAGE-DISEASE TYPE-II - IDENTIFICATION OF 4 NOVEL MISSENSEMUTATIONS (D645N, G648S, R672W, R672Q) AND 2 INSERTIONS DELETIONS IN THE ACID ALPHA-GLUCOSIDASE LOCUS OF PATIENTS OF DIFFERING PHENOTYPE/, Biochemical and biophysical research communications, 244(3), 1998, pp. 921-927
SUDDEN-INFANT-DEATH-SYNDROME (SIDS) IN A FAMILY WITH MYOPHOSPHORYLASEDEFICIENCY
Authors: ELSCHAHAWI M BRUNO C TSUJINO S SARRAZIN AM SHANSKE S LEROUX MG DIMAURO S
Citation: M. Elschahawi et al., SUDDEN-INFANT-DEATH-SYNDROME (SIDS) IN A FAMILY WITH MYOPHOSPHORYLASEDEFICIENCY, Neuromuscular disorders, 7(2), 1997, pp. 81-83
MATERNALLY INHERITED ENCEPHALOPATHY ASSOCIATED WITH A SINGLE-BASE INSERTION IN THE MITOCHONDRIAL TRNA(TRP) GENE
Authors: SANTORELLI FM TANJI K SANO M SHANSKE S ELSHAHAWI M KRANZEBLE P DIMAURO S DEVIVO DC
Citation: Fm. Santorelli et al., MATERNALLY INHERITED ENCEPHALOPATHY ASSOCIATED WITH A SINGLE-BASE INSERTION IN THE MITOCHONDRIAL TRNA(TRP) GENE, Annals of neurology, 42(2), 1997, pp. 256-260
HIGH PROPORTIONS OF MTDNA DUPLICATIONS IN PATIENTS WITH KEARNS-SAYRE-SYNDROME OCCUR IN THE HEART
Authors: FROMENTY B CARROZZO R SHANSKE S SCHON EA
Citation: B. Fromenty et al., HIGH PROPORTIONS OF MTDNA DUPLICATIONS IN PATIENTS WITH KEARNS-SAYRE-SYNDROME OCCUR IN THE HEART, American journal of medical genetics, 71(4), 1997, pp. 443-452
HETEROGENEOUS CLINICAL PRESENTATION OF THE MTDNA NARP T8993G MUTATION/
Authors: SANTORELLI FM TANJI K SHANSKE S DIMAURO S
Citation: Fm. Santorelli et al., HETEROGENEOUS CLINICAL PRESENTATION OF THE MTDNA NARP T8993G MUTATION/, Neurology, 49(1), 1997, pp. 270-273
MITOCHONDRIAL ENCEPHALOMYOPATHY WITH COENZYME Q(10) DEFICIENCY
Authors: SOBREIRA C HIRANO M SHANSKE S KELLER RK HALLER RG DAVIDSON E SANTORELLI FM MIRANDA AF BONILLA E MOJON DS BARREIRA AA KING MP DIMAURO S
Citation: C. Sobreira et al., MITOCHONDRIAL ENCEPHALOMYOPATHY WITH COENZYME Q(10) DEFICIENCY, Neurology, 48(5), 1997, pp. 1238-1243
ASYMPTOMATIC PATIENT WITH MYOPHOSPHORYLASE DEFICIENCY, HIGH CK, AND THE L396P MUTATION
Authors: GOSPE SM ELSCHAHAWI M SHANSKE S BRUNO C DIMAURO S HOYE E WALSH DA GORIN FA
Citation: Sm. Gospe et al., ASYMPTOMATIC PATIENT WITH MYOPHOSPHORYLASE DEFICIENCY, HIGH CK, AND THE L396P MUTATION, Neurology, 48(3), 1997, pp. 5113-5113
Risultati: 1-25 | 26-50 | 51-75 | 76-96