List of works - Maria Pala

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance

scientific article published on 28 June 2014

A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages

scientific article

Bulgarians vs the other European populations: a mitochondrial DNA perspective

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

scientific article published on 14 December 2012

Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups

scientific article

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

scientific article

In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq

scientific article

Mendelian breeding units versus standard sampling strategies: Mitochondrial DNA variation in southwest Sardinia.

scientific article published on April 2011

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

scientific article published on 19 September 2008

Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole

scientific article published in 2011

Mitochondrial DNA signals of late glacial recolonization of Europe from near eastern refugia

scientific article

Mitochondrial DNA variation of modern Tuscans supports the near eastern origin of Etruscans

scientific article

Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation

scientific article

Mitochondrial genomes of extinct aurochs survive in domestic cattle

Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians

scientific article

Mitogenomes from two uncommon haplogroups mark late glacial/postglacial expansions from the near east and neolithic dispersals within Europe

scientific article

Molecular barcoding and phylogeography of sexual and asexual freshwater planarians of the genus Dugesia in the Western Mediterranean (Platyhelminthes, Tricladida, Dugesiidae)

scientific article (publication date: September 2009)

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

scientific article published on 23 January 2008

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

scientific article

Saami and Berbers--an unexpected mitochondrial DNA link

scientific article

Schmidtea mediterranea phylogeography: an old species surviving on a few Mediterranean islands?

scientific article (publication date: 26 September 2011)

The Anglo-Saxon migration and the formation of the early English gene pool ⬇️

scientific article published on 21 September 2022

The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity

scientific article

The complex and diversified mitochondrial gene pool of Berber populations

scientific article

The initial peopling of the Americas: a growing number of founding mitochondrial genomes from Beringia

scientific article

The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa

scientific article

The multifaceted origin of taurine cattle reflected by the mitochondrial genome

scientific article (publication date: June 2009)

Variations at the H-strand replication origins of mitochondrial DNA and mitochondrial DNA content in the blood of type 2 diabetes patients

Y-chromosomal evidence of the cultural diffusion of agriculture in Southeast Europe

scientific article

Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe

scientific article (publication date: June 2009)

List of works by Maria Pala

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance

A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages

Bulgarians vs the other European populations: a mitochondrial DNA perspective

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq

Mendelian breeding units versus standard sampling strategies: Mitochondrial DNA variation in southwest Sardinia.

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole

Mitochondrial DNA signals of late glacial recolonization of Europe from near eastern refugia

Mitochondrial DNA variation of modern Tuscans supports the near eastern origin of Etruscans

Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation

Mitochondrial genomes of extinct aurochs survive in domestic cattle

Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians

Mitogenomes from two uncommon haplogroups mark late glacial/postglacial expansions from the near east and neolithic dispersals within Europe

Molecular barcoding and phylogeography of sexual and asexual freshwater planarians of the genus Dugesia in the Western Mediterranean (Platyhelminthes, Tricladida, Dugesiidae)

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

Saami and Berbers--an unexpected mitochondrial DNA link

Schmidtea mediterranea phylogeography: an old species surviving on a few Mediterranean islands?

The Anglo-Saxon migration and the formation of the early English gene pool ⬇️

The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity

The complex and diversified mitochondrial gene pool of Berber populations

The initial peopling of the Americas: a growing number of founding mitochondrial genomes from Beringia

The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa

The multifaceted origin of taurine cattle reflected by the mitochondrial genome

Variations at the H-strand replication origins of mitochondrial DNA and mitochondrial DNA content in the blood of type 2 diabetes patients

Y-chromosomal evidence of the cultural diffusion of agriculture in Southeast Europe

Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe