about
Fibroblast growth factor (FGF) 18 signals through FGF receptor 3 to promote chondrogenesisMutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceAdult-onset spinocerebellar ataxia syndromes due to MTATP6 mutationsThe ocular motor features of adult-onset alexander disease: a case and review of the literature.Gabapentin in the treatment of antipsychotic-induced akathisia in schizophrenia.SPG7 mutations are a common cause of undiagnosed ataxiaExome sequencing in undiagnosed inherited and sporadic ataxiasTitin mutation segregates with hereditary myopathy with early respiratory failure.Emerging therapies for mitochondrial disorders.New treatments for mitochondrial disease-no time to drop our standards.A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failureMultisystem disorder in late-onset chronic progressive external ophthalmoplegia.Stroke in young women.Cardiac screening investigations in adult-onset progressive external ophthalmoplegia patients.Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.Chronic and slowly progressive weakness of the legs and hands.Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.Titinopathy in a Canadian family sharing the British founder haplotype.Levator Palpebrae Biopsy and Diagnosis of Progressive External OphthalmoplegiaGNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle AtrophyColchicine Myopathy: A Case Series Including Muscle MRI and ABCB1 Polymorphism Data.Restricted diffusion and poor clinical outcome in cerebral fat embolism syndromeFentanyl Overdose Causing Hippocampal Ischaemia Followed by Delayed LeukoencephalopathyLong noncoding RNAs associated with phenotypic severity in multiple sclerosisRespiratory management of patients with neuromuscular disease: current perspectivesNeuropathy due to impaired axonal transport of non-fragmented mitochondria in MYH14 mutation carriers-Authors' replyHigh diagnostic yield and novel variants in very late-onset spasticitySystematic review of the clinical spectrum of CASPR2 antibody syndromeSystematic review and meta-analysis of cardiac involvement in mitochondrial myopathyThe R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathyHereditary Myopathy with Early Respiratory Failure
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description
researcher ORCID ID = 0000-0002-7657-7098
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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type
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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Gerald Pfeffer
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P106
P31
P496
0000-0002-7657-7098