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Authors whose works are in public domain in at least one jurisdiction

List of works by Gerald Pfeffer

A national spinal muscular atrophy registry for real world evidence

scientific article published on 04 June 2020

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure

scientific article published on 11 December 2013

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

scientific article

Biopsy-proven immune reconstitution syndrome in a patient with AIDS and cerebral toxoplasmosis.

scientific article published in July 2009

Cardiac screening investigations in adult-onset progressive external ophthalmoplegia patients.

scientific article published on October 2012

Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss

scientific article published in 2022

Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss

scientific article published in 2021

Chronic and slowly progressive weakness of the legs and hands

scientific article published on 28 January 2014

Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations

scientific article

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

scientific article published in January 2015

Colchicine Myopathy: A Case Series Including Muscle MRI and ABCB1 Polymorphism Data.

scientific article

Diagnosis and treatment of mitochondrial myopathies ⬇️

scientific article published on August 25, 2011

Diagnosis of muscle diseases presenting with early respiratory failure

scientific article

Emerging therapies for mitochondrial disorders

scientific article published on 03 May 2016

Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia

scientific article published on 2 February 2016

Exome sequencing in undiagnosed inherited and sporadic ataxias

scientific article

Fentanyl Overdose Causing Hippocampal Ischaemia Followed by Delayed Leukoencephalopathy

scientific article published on 17 February 2020

Fibroblast growth factor (FGF) 18 signals through FGF receptor 3 to promote chondrogenesis

scientific article (publication date: 27 May 2005)

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

scientific article published on 08 November 2018

Gabapentin in the treatment of antipsychotic-induced akathisia in schizophrenia.

scientific article

Hereditary Myopathy with Early Respiratory Failure

scientific article published on 28 February 2014

High diagnostic yield and novel variants in very late-onset spasticity

scientific article published on 12 February 2019

Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia

scientific article published on 01 July 2012

Long noncoding RNAs associated with phenotypic severity in multiple sclerosis

scientific article published on 19 September 2019

Multisystem disorder in late-onset chronic progressive external ophthalmoplegia.

scientific article published on January 2011

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

scientific article

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

scientific article published on 19 March 2018

Neuropathy due to impaired axonal transport of non-fragmented mitochondria in MYH14 mutation carriers-Authors' reply

scientific article published on 17 October 2019

New treatments for mitochondrial disease-no time to drop our standards

scientific article published on 02 July 2013

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

scientific article published on 21 November 2013

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

scientific article published on 27 February 2014

Respiratory management of patients with neuromuscular disease: current perspectives

scientific article published on 18 November 2016

Response to provincial governments' decisions regarding monitoring for adults with Spinal Muscular Atrophy

scientific article published on 27 July 2020

Restricted diffusion and poor clinical outcome in cerebral fat embolism syndrome

scientific article published on 01 January 2010

SPG7 mutations are a common cause of undiagnosed ataxia

scientific article

Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import

scientific article published on 06 November 2020

Stroke in young women.

scientific article published on May 2011

Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy

scientific article published on 12 June 2019

Systematic review of the clinical spectrum of CASPR2 antibody syndrome

scientific article published on 07 January 2020

The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy

scientific article published on 21 June 2019

The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia

scientific article published on 13 December 2012

The ocular motor features of adult-onset alexander disease: a case and review of the literature

scientific article

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

scientific article published on 13 March 2013

Titin mutation segregates with hereditary myopathy with early respiratory failure

scientific article

Titinopathy in a Canadian family sharing the British founder haplotype

scientific article published in January 2014

Treatment for mitochondrial disorders

scientific article

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