Majdi Kara

发表

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

T. Ideker, J. Al-Aama, Matan Hofree, 2014, Science.

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

P. Striano, N. Longo, C. V. van Karnebeek, 2020, Journal of inherited metabolic disease.

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

A. Schlessinger, A. Caglayan, M. Topcu, 2016, Cell.

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Dillon Y. Chen, J. Gleeson, H. Houlden, 2020, Nature Communications.

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.

F. Alkuraya, E. Faqeih, A. El-Hattab, 2018, Pediatric neurology.

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Robert A Harris, Stephan J Sanders, Matthew W State, 2012, Science.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

P. Striano, S. Bianca, J. Goraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration

Kiely N. James, Martin W. Breuss, I. Miller, 2018, Nature Genetics.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

S. Gabriel, M. Gunel, A. Cazenave-Gassiot, 2015, Nature Genetics.

Clinical features and molecular epidemiology of rotavirus and norovirus infections in Libyan children

L. Cuevas, Majdi Kara, N. Cunliffe, 2011, Journal of medical virology.

Mutations in CSPP1 lead to classical Joubert syndrome.

S. Gabriel, M. Gunel, M. Kabra, 2014, American journal of human genetics.

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Kiely N. James, Martin W. Breuss, A. Caglayan, 2018, Nature Genetics.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Stephan J Sanders, Robert A. Harris, S. Gabriel, 2012, Science.