絞り込み

16639

広告

「"Ouled Amar Bencheikh B "[Author]」の検索結果

13件中 1件~13件表示    検索結果をPubMedで見る PubMedで見る

Genetic, structural and functional evidence link TMEM175 to synucleinopathies.

Common and rare GCH1 variants are associated with Parkinson's disease.

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.

LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder.

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.

A Novel Nonsense Mutation in SCN9A in a Moroccan Child With Congenital Insensitivity to Pain.

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.

Sort by
※並べ替えは表示に時間がかかります