A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan, +15

Nature Genetics

SpermatogenesisDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGenetics +8

Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development

Louise V.B. Anderson, Kenneth Davison, Jessica Moss, +12

Human Molecular Genetics

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

T Strachan, Sharon Keers, I. Mahjneh, +3

Human Molecular Genetics

Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

Gavin Hudson, Sharon Keers, Patrick Yu Wai Man, +12

The American Journal of Human Genetics

BiologyDnaMendelian DisorderMitochondrial FunctionGenetic Disorder +9

Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)

Tracey Weiler, R. Bashir, Louise V.B. Anderson, +9

Human Molecular Genetics

Miyoshi MyopathyRare DiseasesOr Miyoshi MyopathyMendelian DisorderGenetic Disorder +11

Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD

Angela Pyle, Thomas Foltynie, Watcharee Tiangyou, +9

Annals of Neurology

GeneticsGenetic EpidemiologyMolecular BiologyMolecular GeneticsDisease Gene Identification +19

Mitochondrial DNA and survival after sepsis: a prospective study

Simon Baudouin, David Saunders, Watcharee Tiangyou, +7

The Lancet

Mitochondrial FunctionCell DeathSepsisDna ReplicationPathology +3

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

Louise V.B. Anderson, Ruth M Harrison, Robert Pogue, +16

Neuromuscular Disorders

Miyoshi MyopathyCalpain 3Skeletal MusclePhysiologySecondary Reduction +1

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

Masashi Aoki, J. Liu, Isabelle Richard, +22

Neurology

Muscular dystrophy due to dysferlin deficiency in Libyan Jews

Zohar Argov, Menachem Sadeh, Kineret Mazor, +10

Brain