SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

Complex II deficiency-A case report and review of the literature

(2013) Shailly Jain-Ghai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Immunohistochemical Loss of Succinate Dehydrogenase Subunit A (SDHA) in Gastrointestinal Stromal Tumors (GISTs) Signals SDHA Germline Mutation

(2013) Markku Miettinen et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy

(2013) Yan-Yan Ma et al.   BRAIN & DEVELOPMENT

GermlineSDHAMutation Detected by Next-Generation Sequencing in a Young Index Patient With Large Paraganglioma

(2013) Jenny Welander et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

FamilialSDHAMutation Associated With Pituitary Adenoma and Pheochromocytoma/Paraganglioma

(2013) Trisha Dwight et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations inSDHDlead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

(2013) Christopher Benjamin Jackson et al.   JOURNAL OF MEDICAL GENETICS

Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors

(2013) Martin G. Belinsky   Frontiers in Oncology

Loss of SDHA Expression Identifies SDHA Mutations in Succinate Dehydrogenase–deficient Gastrointestinal Stromal Tumors

(2012) Trisha Dwight et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors

(2012) Antoine Italiano et al.   BMC CANCER

Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation ofSDHAin wild-type SDHB-negative gastrointestinal stromal tumors

(2012) Martin G. Belinsky et al.   GENES CHROMOSOMES & CANCER

An Update on the Genetics of Paraganglioma, Pheochromocytoma, and Associated Hereditary Syndromes

(2012) A.-P. Gimenez-Roqueplo et al.   HORMONE AND METABOLIC RESEARCH

Recessive germlineSDHAandSDHBmutations causing leukodystrophy and isolated mitochondrial complex II deficiency

(2012) Charlotte L Alston et al.   JOURNAL OF MEDICAL GENETICS

Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors

(2012) Andrew J Wagner et al.   MODERN PATHOLOGY

A Distinct Pediatric-type Gastrointestinal Stromal Tumor in Adults

(2011) Maria A. Pantaleo et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

SDH mutations in cancer

(2011) Chiara Bardella et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

SDHA Immunohistochemistry Detects GermlineSDHAGene Mutations in Apparently Sporadic Paragangliomas and Pheochromocytomas

(2011) Esther Korpershoek et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

SDHA Loss-of-Function Mutations in KIT-PDGFRA Wild-Type Gastrointestinal Stromal Tumors Identified by Massively Parallel Sequencing

(2011) M. A. Pantaleo et al.   JNCI-Journal of the National Cancer Institute

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase

(2010) Aviva Levitas et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SDHA is a tumor suppressor gene causing paraganglioma

(2010) Nelly Burnichon et al.   HUMAN MOLECULAR GENETICS

Biochemical diagnosis of mitochondrial disorders

(2010) Richard J. T. Rodenburg   JOURNAL OF INHERITED METABOLIC DISEASE

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

(2009) Daniele Ghezzi et al.   NATURE GENETICS