SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Rosalba Carrozzo, Carlo Dionisi‐Vici, Ulrike Steuerwald, +16

Brain

GeneticsPathologyMolecular BiologyMolecular GeneticsDisease Gene Identification +18

CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis

Alberto di Ronza, Lakshya Bajaj, Jai Prakash Sharma, +15

Nature Cell Biology

Lysosome BiogenesisSignal TransductionNatural SciencesMolecular BiologyProtein Transport +7

Pontocerebellar hypoplasia type 6 caused by mutations in <i>RARS2</i>: definition of the clinical spectrum and molecular findings in five patients

Denise Cassandrini, Maria Roberta Cilio, Marzia Bianchi, +19

Journal of Inherited Metabolic Disease

Understanding pyrroline‐5‐carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure‐based analysis, and novel therapy with arginine

Diego Martinelli, Johannes Häberle, Vicente Rubio, +12

Journal of Inherited Metabolic Disease

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Chiara Criscuolo, Claudio Procaccini, Maria Chiara Meschini, +11

Journal of Neurology

BiologyGeneticsPowerhouse FailureOxidative DamageDegenerative Disease

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

Mariana Ferreira, Alessandra Torraco, Teresa Rizza, +13

Neurogenetics

Novel MutationRespiratory ChainInflammatory Lung DiseaseGenetic DisorderPathogenesis +6

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

Célia Nogueira, José Barros, María José Sá, +12

Neurogenetics

Novel Ttc19 MutationMendelian DisorderComplex Iii DeficiencyPsychiatryPsychiatric Disorders +10

TRPV4 mutations in children with congenital distal spinal muscular atrophy

Chiara Fiorillo, Francesca Moro, Giacomo Brisca, +14

Neurogenetics

Trpv4 MutationsRare DiseasesGenetic DisorderMedicineGenetics +2

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis

Alessandra Torraco, Daniela Verrigni, Teresa Rizza, +9

Neurogenetics

Natural SciencesGeneticsComplex V BiogenesisDna ReplicationMolecular Biology +8

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

Denise Cassandrini, Maria Grazia Calevo, Alessandra Tessa, +10

Biochemical and Biophysical Research Communications

Mendelian DisorderMitochondrial FunctionGenetic DisorderNatural SciencesGenetics +8