Eduardo Bonilla
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Biology
Eduardo Bonilla's Degrees
- PhD Genetics Stanford University
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(Suggest an Edit or Addition)Eduardo Bonilla's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. (1989) (963)
- Mitochondrial diseases. (1989) (868)
- Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease) (2000) (857)
- Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface (1988) (604)
- mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. (1991) (594)
- Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene (1999) (565)
- MELAS: Clinical features, biochemistry, and molecular genetics (1992) (481)
- Deletions of mitochondrial DNA in Kearns‐Sayre syndrome (1988) (450)
- Mitochondrial DNA Mutations and Pathogenesis (1997) (432)
- Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. (1999) (410)
- Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations (2000) (318)
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (1994) (311)
- Lumping or splitting? “ophthalmoplegia‐plus” or kearns‐sayre syndrome? (1977) (310)
- Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. (1994) (306)
- N-acetylcysteine reduces disease activity by blocking mammalian target of rapamycin in T cells from systemic lupus erythematosus patients: a randomized, double-blind, placebo-controlled trial. (2012) (304)
- Rapamycin reduces disease activity and normalizes T cell activation-induced calcium fluxing in patients with systemic lupus erythematosus. (2006) (288)
- The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. (1992) (273)
- Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA (1993) (231)
- Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? (1993) (229)
- Activation of Mammalian Target of Rapamycin Controls the Loss of TCRζ in Lupus T Cells through HRES-1/Rab4-Regulated Lysosomal Degradation1 (2009) (223)
- Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. (1989) (218)
- Cytochemistry and immunocytochemistry of mitochondria in tissue sections. (1996) (211)
- Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA (1992) (208)
- Mitochondrial encephalomyopathy with coenzyme Q10 deficiency (1997) (194)
- Mitochondrial involvement in Alzheimer's disease. (1999) (178)
- Acute quadriplegic myopathy (1992) (175)
- Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene (1999) (172)
- Fatal infantile cytochrome c oxidase deficiency (1985) (165)
- Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions (1992) (164)
- Widespread tissue distribution of mitochondrial DNA deletions in Kearns‐Sayre syndrome (1990) (158)
- Mitochondrial DNA depletion and dGK gene mutations (2002) (157)
- Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. (2006) (154)
- Mitochondria in neuromuscular disorders. (1998) (153)
- A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. (1999) (149)
- A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase. (1975) (149)
- A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene (1995) (148)
- Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. (2005) (144)
- Neuropathology of Mitochondrial Encephalomyopathies Due to Mitochondrial DNA Defects (1993) (140)
- Differential features of patients with mutations in two COX assembly genes, SURF‐1 and SCO2 (2000) (135)
- A key role for MAM in mediating mitochondrial dysfunction in Alzheimer disease (2018) (135)
- Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency. (2002) (127)
- Luft's disease Further biochemical and ultrastructural studies of skeletal muscle in the second case (1976) (126)
- Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. (2009) (126)
- Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. (1994) (126)
- Duchenne dystrophy: alteration in muscle plasma membrane structure. (1977) (126)
- Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. (2002) (120)
- Mitochondrial DNA depletion (2002) (116)
- Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. (2003) (113)
- A mitochondrial tRNA anticodon swap associated with a muscle disease (1993) (113)
- Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients (1996) (113)
- Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. (2006) (109)
- A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria (1999) (108)
- A functionally dominant mitochondrial DNA mutation. (2008) (107)
- Cytochrome c Oxidase Deficiency (1990) (104)
- Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. (2008) (104)
- Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. (1995) (103)
- X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. (2008) (103)
- Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA (2000) (102)
- Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy. (1999) (101)
- The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. (2008) (101)
- Myoclonic epilepsy and ragged‐red fibers with cytochrome oxidase deficiency: Neuropathology, biochemistry, and molecular genetics (1989) (100)
- Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging. (1996) (99)
- Benign reversible muscle cytochrome c oxidase deficiency (1987) (95)
- Immunocytochemical study of dystrophin at the myotendinous junction (1990) (92)
- Immunocytochemical study of dystrophin in muscle cultures from patients with Duchenne muscular dystrophy and unaffected control patients. (1988) (91)
- Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy. (1994) (90)
- Cytochrome‐c‐oxidase deficiency in a floppy infant (1982) (90)
- Freeze-fracture studies of muscle caveolae in human muscular dystrophy. (1981) (87)
- Neuropathological features of mitochondrial disorders. (2001) (86)
- Differential diagnosis of fatal and benign cytochrome c oxidase‐deficient myopathies of infancy (1991) (85)
- Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene (1999) (85)
- Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency (2003) (85)
- Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy. (1988) (84)
- Progressive ophthalmoplegia, glycogen storage, and abnormal mitochondria. (1973) (84)
- Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. (2002) (83)
- Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization (1992) (81)
- Neuromuscular disorder associated with a defect in mitochondrial energy supply. (1976) (78)
- Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses (1998) (76)
- Chromosome 12‐linked autosomal dominant scapuloperoneal muscular dystrophy (1996) (71)
- Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus. (2008) (71)
- Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. (2003) (69)
- Association of myopathy with large‐scale mitochondrial dna duplications and deletions: Which is pathogenic? (1997) (69)
- Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation. (2007) (68)
- Clinical manifestations of mitochondrial DNA depletion. (1998) (68)
- Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome (1991) (68)
- Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency. (1986) (68)
- New Morphological Approaches to the Study of Mitochondrial Encephalomyopathies (1992) (67)
- Clinical features and genetics of myoclonic epilepsy with ragged red fibers. (2002) (67)
- Cytochrome Oxidase Deficiency: Clinical and Biochemical Heterogeneity a (1986) (66)
- Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. (2005) (66)
- Fatal infantile form of muscle phosphofructokinase deficiency (1986) (62)
- Dystrophin in electric organ of Torpedo californica homologous to that in human muscle. (1989) (62)
- Duchenne dystrophy: Focal alterations in the distribution of concanavalin a binding sites at the muscle cell surface (1978) (61)
- Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects (2002) (61)
- Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome? (2001) (60)
- Clinical manifestations of mitochondria1 DNA depletion (1998) (60)
- A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2 (2003) (59)
- Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q (1999) (58)
- Does the Patient Have a Mitochondrial Encephalomyopathy? (1999) (58)
- Kearns–Sayre syndrome: oncocytic transformation of choroid plexus epithelium (2000) (58)
- Mitochondrial myopathy simulating spinal muscular atrophy. (1996) (57)
- Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. (2013) (56)
- A Novel Mitochondrial G8313A Mutation Associated with Prominent Initial Gastrointestinal Symptoms and Progressive Encephaloneuropathy (1997) (55)
- Reversion of mtDNA depletion in a patient with TK2 deficiency (2003) (53)
- Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA (2002) (53)
- Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region (1991) (52)
- A novel mitochondrial tRNALeu(UUR) mutation in a patient with features of MERRF and Kearns–Sayre syndrome (2003) (49)
- Application of the freeze fracture technique to the study of human neuromuscular disease (1980) (49)
- Cell fractionation studies indicate that dystrophin is a protein of surface membranes of skeletal muscle. (1989) (49)
- Quantitative ultrastructural study of muscle satellite cells in Duchenne dystrophy (1979) (49)
- Mitochondrial DNA copy number threshold in mtDNA depletion myopathy (2005) (48)
- Haplotypes of the HRES-1 endogenous retrovirus are associated with development and disease manifestations of systemic lupus erythematosus. (2008) (48)
- Molecular mimicry and immunomodulation by the HRES-1 endogenous retrovirus in SLE (2008) (46)
- Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria. (2001) (45)
- Mitochondrial myopathies (1987) (45)
- Electron cytochemistry of crystalline inclusions in human skeletal muscle mitochondria. (1975) (44)
- Immunocytochemical localization of the mammalian voltage-dependent sodium channel using polyclonal antibodies against the purified protein (1984) (44)
- Histochemical diagnosis of muscle phosphofructokinase deficiency. (1970) (43)
- Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. (2006) (42)
- Fatal toxic myopathy attributed to propofol, methylprednisolone, and cyclosporine after prior exposure to colchicine and simvastatin (2007) (42)
- Molecular defects in cytochrome oxidase in mitochondrial diseases (1988) (41)
- The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction (2002) (40)
- Immunofluorescence microscopy is superior to fluorescent beads for detection of antinuclear antibody reactivity in systemic lupus erythematosus patients. (2007) (39)
- Unusual Clinical Presentations in Four Cases of Leigh Disease, Cytochrome C Oxidase Deficiency, and SURF1 Gene Mutations (2005) (39)
- Phenotype–genotype correlations in skeletal muscle of patients with mtDNA deletions (1995) (38)
- Mitochondrial DNA depletion in a patient with long survival (1998) (37)
- Kearns‐Sayre syndrome: Unusual pattern of expression of subunits of the respiratory chain in the cerebellar system (1999) (36)
- Staining of transverse tubular system of skeletal muscle by tannic acid-glutaraldehyde fixation. (1977) (36)
- Light microscopic methods to visualize mitochondria on tissue sections. (2008) (35)
- Freeze fracture studies of muscle plasma membrane in human muscular dystrophy (2004) (35)
- Cytochrome c oxidase deficiency. (1985) (34)
- Liver injury correlates with biomarkers of autoimmunity and disease activity and represents an organ system involvement in patients with systemic lupus erythematosus. (2015) (33)
- High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy (1995) (32)
- Mitochondria1 encephalomyopathy and partial cytochrome c oxidase deficiency (1987) (32)
- Disorders Associated with Depletion of Mitochondrial DNA (1992) (32)
- A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. (2003) (32)
- Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA. (2002) (32)
- Deletions of mitochondrial DNA in Kearns-Sayre syndrome (1998) (32)
- Dystrophin immunocytochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy. (1989) (31)
- Celiac disease in a patient with systemic lupus erythematosus: a case report and review of literature (2007) (31)
- Increased blood–brain barrier permeability with thymidine phosphorylase deficiency (2004) (31)
- Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathy (1990) (31)
- Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA (2002) (31)
- Progressive depletion of fast alpha‐actinin‐positive muscle fibers in Duchenne muscular dystrophy (1991) (30)
- A new mitochondrial DNA mutation (A3288G) in the tRNALeu(UUR) gene associated with familial myopathy (1999) (30)
- Myoclonic Epilepsy with Ragged‐red Fibers (MERRF): An Immunohistochemical Study of the Brain (1995) (30)
- Cytochrome C Oxidase Deficiency and Neuronal Involvement in Menkes' Kinky Hair Disease: Immunohistochemical Study (1993) (29)
- A Novel ND3 Mitochondrial DNA Mutation in Three Korean Children With Basal Ganglia Lesions and Complex I Deficiency (2007) (29)
- Loss of myelin-associated glycoprotein in kearns-sayre syndrome. (2012) (28)
- Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32. (1988) (28)
- Freeze‐fracture studies of erythrocyte plasma membrane in human neuromuscular diseases (1979) (27)
- Ubiquitin expression in acute steroid myopathy with loss of myosin thick filaments (1996) (26)
- Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome (1999) (26)
- Mitochondrial genes for generalized epilepsies. (1999) (25)
- Neuropathologic Aspects of Cytochrome C Oxidase Deficiency (2000) (24)
- Hypoglycaemia after initiation of treatment with etanercept in a patient with type 2 diabetes mellitus (2007) (24)
- Immunologic study of vinculin in Duchenne muscular dystrophy (1992) (23)
- Signaling abnormalities in systemic lupus erythematosus as potential drug targets. (2006) (23)
- Alteration in erythrocyte membrane structure in duchenne muscular dystrophy (1978) (23)
- Study of mitochondrial DNA depletion in muscle by single‐fiber polymerase chain reaction (1998) (23)
- N-ACETYLCYSTEINE REDUCES DISEASE ACTIVITY BY BLOCKING MTOR IN T CELLS OF LUPUS PATIENTS (2012) (22)
- Biochemical and molecular aspects of cytochrome C oxidase deficiency. (1988) (22)
- Cytochrome oxidase deficiency: progress and problems (1994) (21)
- A5814G Mutation in Mitochondrial DNA Can Cause Mitochondrial Myopathy and Cardiomyopathy (2001) (21)
- Exercise-induced muscle “burning,” fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNAGly (2002) (21)
- Successful treatment of secondary macrophage activation syndrome with emapalumab in a patient with newly diagnosed adult-onset Still's disease: case report and review of the literature. (2020) (21)
- Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: A new approach to the study of mitochondrial myopathies (1991) (20)
- Isolation and characterization of muscle membranes using surface-specific labels. (1977) (19)
- Immunocytochemical study of nebulin in Duchenne muscular dystrophy (1988) (19)
- Ultrastructural study of the muscle cell surface. (1983) (19)
- Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients. (1995) (18)
- Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria (1993) (18)
- Analysis of mtDNA deletions in muscle by in situ hybridization (2000) (18)
- Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation (2005) (17)
- Clinical and Biochemical Studies on Cytochrome Oxidase Deficiencies a (1988) (17)
- Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene (2008) (17)
- Muscle plasma membrane abnormalities in infants with Duchenne muscular dystrophy (1983) (17)
- CCL genes in multiple sclerosis and systemic lupus erythematosus (2008) (17)
- Freeze‐fracture analysis of plasma membrane cholesterol in duchenne muscle (1983) (16)
- Mitochondrial Encephalomyopathies, Overview (2003) (15)
- Is nebulin the defective gene product in Duchenne muscular dystrophy? (1987) (15)
- Diseases of oxidative phosphorylation due to mtDNA mutations. (2001) (15)
- Mitochondrial neurology II: myopathies and peripheral neuropathies (2006) (15)
- Mitochondrial DNA dysfunction in oncocytic hepatocytes (2003) (14)
- Abnormalities in the expression of β‐spectrin in Duchenne muscular dystrophy (1994) (14)
- Transplantation of human skeletal muscle to nude mice (1980) (14)
- Mitochondrial DNA Deletion in a Child Mitochondrial DNA Deletion in a Child With Megaloblastic Anemia and Recurrent Encephalopathy (2004) (14)
- A novel tRNAVal mitochondrial DNA mutation causing MELAS (2008) (14)
- Mitochondrial analysis in autosomal dominant hereditary spastic paraplegia (2000) (13)
- Mitochondrial encephalomyopathies: biochemical approach. (1991) (13)
- Clinical and Genetic Features in Two Families With MELAS and the T3271C Mutation in Mitochondrial DNA (2005) (12)
- Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease. (2010) (12)
- Gap junctions between fibroblasts in rat myotendon. (1995) (12)
- Disorganization of dystrophin costameric lattice in Becker muscular dystrophy (1998) (12)
- Mitochondrial encephalomyopathies. (1990) (12)
- Myopathy with tubulin-reactive crystalline inclusions (2001) (11)
- Mitochondrial encephalomyopathies. (1989) (10)
- CORE FORMATION IN THE MUSCLES OF RATS INTOXICATED WITH TRIETHYLTIN SULFATE (1976) (10)
- Acute quadriplegic myopathy (1994) (9)
- Mitochondrial myopathies (1985) (9)
- Becker muscular dystrophy or spinal muscular atrophy?—Dystrophin studies resolve conflicting results of electromyography and muscle biopsy (1991) (9)
- Freeze-fracture analysis of plasma membrane cholesterol in fast- and slow-twitch muscles. (1982) (9)
- Concanavalin a binding of the cell surface of Duchenne muscle in vitro (1982) (9)
- Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency. (2004) (8)
- Luft's disease: an electron cytochemical study. (1977) (8)
- Freeze-fracture characterization of 'young' and 'old' human erythrocytes. (1982) (6)
- Freeze‐fracture study of muscle plasma membrane in obligate carriers of Duchenne muscular dystrophy (1983) (6)
- A novel tRNA<ce:sup loc=post>Val</ce:sup> mitochondrial DNA mutation causing MELAS (2008) (6)
- Carrier detection of Duchenne and Becker muscular dystrophy using muscle dystrophin immunohistochemistry. (1992) (6)
- Association of psoriasis and psoriatic arthritis with systemic lupus erythematosus (2016) (5)
- Ultrastructural alterations in encephalomyopathies of mitochondrial origin (1998) (5)
- Mitochondrial Encephalomyopathy Due to a Novel Mutation in the tRNAGlu of Mitochondrial DNA (2007) (5)
- Myogenic conversion of human non-muscle cells for the diagnosis and therapy of neuromuscular diseases. (1990) (5)
- Lamellar bodies at the cell periphery of human muscle fibers. (1979) (4)
- [Dystrophin in the differentiation between Duchenne and Becker muscular dystrophies: an immunohistochemical study compared with clinical stage, serum enzymes and muscle biopsy]. (1990) (4)
- Studies of fragmented sarcoplasmic reticulum from human skeletal muscle (1978) (4)
- Kearns-Sayre syndrome or ophthalmoplegia-plus? To lump or to split? (1976) (4)
- Mosaic expression of dystrophin in carriers of Becker's muscular dystrophy and the X-linked syndrome of myalgia and cramps. (1992) (4)
- Fever as the Sole Presentation of Giant Cell Arteritis: A Near Miss (2019) (3)
- Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria. (2007) (3)
- [Mitochondrial encephalopathies: where are we going?]. (1999) (3)
- Catastrophic Antiphospholipid Syndrome–Associated Nephropathy in a Systemic Lupus Erythematosus Patient Without Lupus Nephritis (2019) (3)
- Deletions of mitochondrial DNA in Kearns-Sayre syndrome (2011) (3)
- Deletions of mitochondrial DNA in Kearns‐Sayre syndrome (1988) (3)
- Ultrastructural study of globular inclusions in human skeletal muscle mitochondria (2004) (3)
- Immunohistochemical alterations of dystrophin in congenital muscular dystrophy. (1995) (2)
- Erratum: Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy (Human Molecular Genetics (1994) 3 (13-19)) (1994) (2)
- Lamellar bodies associated with satellite cells of human skeletal muscle. (1981) (2)
- Abnormalities in the expression of beta-spectrin in Duchenne muscular dystrophy. (1994) (2)
- ACUTE QUADRIPLEGIC MYOPATHY. REPLY (1994) (1)
- Analysis of giant deletions of human mitochondrial DNA in progressive external ophthalmoplegia (1991) (1)
- Mitochondrial DNA heteroplasmy dynamics in a kindred harboring a novel pathogenic mutation in the mitochondrial tRNA glutamate gene (1994) (1)
- [Clinical,manifestations of the myopathies due to deletions/mutations of the dystrophin gene]. (1991) (1)
- Different Populations of Mitochondria in Muscle Biopies Characterized by Ragged-red Fibers (RRF) (1987) (1)
- Freeze-fracture analysis of muscle plasma membrane in Duchenne muscular dystrophy. (1979) (1)
- Erythrocyte membrane studies (1981) (1)
- Erythrocyte membrane studies (1982) (0)
- Recurrent brachial plexopathy as initial presentation of systemic lupus erythematosus: A case report and review of the literature (2022) (0)
- THE CLINICAL SPECTRUM OF MTDNA DEPLETION DUE TO MUTATIONS IN THE THYMIDINE KINASE (TK2) GENE (2006) (0)
- Oxidative Phosphorylation at the fin de siècle Matti Saraste (1999) (0)
- Neurology Ser(ucn) (0)
- Dystrophin in the differentiation between Duchenne and Becker muscular dystrophies: an immunofluorescence study of dystrophin in muscle biopsies related with the clinical stage, serum enzymes and histological findings (1990) (0)
- Increased activity of the mTOR pathway contributes to deficiencies of CD3ζ and Lck in T cells isolated from patients with systemic lupus erythematosus (2008) (0)
- A key role for MAM in mediating mitochondrial dysfunction in Alzheimer disease (2018) (0)
- Ultrastructural localization of concanavalin A-binding sites in satellite cells of human skeletal muscle (2004) (0)
- Edinburgh Research Explorer Loss of myelin-associated glycoprotein in kearns-sayre syndrome (2018) (0)
- Literature abstract (2009) (0)
- Effect of One Year of Thiazide Therapy on Plasma Volume, Renin, Aldosterone, lipids and Urinary Mbtanephrines in Systolic Hypixtension of Elderly Patients (1987) (0)
- [Value of immunocytochemical analysis of dystrophin in the diagnosis of X-chromosome linked muscular dystrophy]. (1992) (0)
- Sa.35. Increased mTOR Activity Contributes to Deficiencies of Lck and CD3ζ in T Cells of Systemic Lupus Erythematosus Patients (2008) (0)
- Phenotypical expression and molecular genetics of the nt-3243 mutation in the mitochondrial tRNA(LEU(UUR)) gene (1995) (0)
- G.P.7.10 Clinical and genetic characterization of a new X-linked dominant scapuloperoneal myopathy (2007) (0)
- Histopathology of catastrophic antiphospholipid syndrome-associated nephropathy in a SLE patient without concurrent lupus nephritis. (2019) (0)
- P.5.12 A mutation in TNPO3 causes LGMD1F and characteristic nuclear pathology (2013) (0)
- Sa.57. Lupus-associated Polymorphism Influences Transcription Factor Binding to the IRF-1 Motif in the Long Terminal Repeat of the HRES-1 Endogenous Retrovirus (2008) (0)
- Gene Product in Duchenne Muscular Dystrophy (DMD): Biochemical and Morphological Data Indicate that Nebulin is a Candidate Protein (1987) (0)
- Isolation and characterization of muscle membranes using surface-specific labels * ( sarcolemma / membrane purification / lectin binding ) (0)
- [Alteration of muscle plasma membrane structure in the preclinical stage of Duchenne dystrophy (author's transl)]. (1980) (0)
- Clinical aspects of dystrophinopathies: Study of a large group (1992) (0)
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What Schools Are Affiliated With Eduardo Bonilla?
Eduardo Bonilla is affiliated with the following schools:
