Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
G Novarino, AG Fenstermaker, MS Zaki, M Hofree… - science, 2014 - science.org
Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases
characterized by progressive age-dependent loss of corticospinal motor tract function …
characterized by progressive age-dependent loss of corticospinal motor tract function …
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
A Guemez-Gamboa, LN Nguyen, H Yang, MS Zaki… - Nature …, 2015 - nature.com
Docosahexanoic acid (DHA) is the most abundant omega-3 fatty acid in brain, and, although
it is considered essential, deficiency has not been linked to disease,. Despite the large mass …
it is considered essential, deficiency has not been linked to disease,. Despite the large mass …
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
N Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang… - Nature …, 2015 - nature.com
Pediatric-onset ataxias often present clinically as developmental delay and intellectual
disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we …
disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we …
[PDF][PDF] Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities
F Radmanesh, AO Caglayan, JL Silhavy… - The American Journal of …, 2013 - cell.com
Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by
protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is …
protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is …
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
RM Lardelli, AE Schaffer, VRC Eggens, MS Zaki… - Nature …, 2017 - nature.com
Deadenylases are best known for degrading the poly (A) tail during mRNA decay. The
deadenylase family has expanded throughout evolution and, in mammals, consists of 12 …
deadenylase family has expanded throughout evolution and, in mammals, consists of 12 …
[PDF][PDF] Mutations in CSPP1 lead to classical Joubert syndrome
Joubert syndrome and related disorders (JSRDs) are genetically heterogeneous and
characterized by a distinctive mid-hindbrain malformation. Causative mutations lead to …
characterized by a distinctive mid-hindbrain malformation. Causative mutations lead to …
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
I Marin-Valencia, G Novarino, A Johansen… - Journal of medical …, 2018 - jmg.bmj.com
Background Transport protein particle (TRAPP) is a multisubunit complex that regulates
membrane trafficking through the Golgi apparatus. The clinical phenotype associated with …
membrane trafficking through the Golgi apparatus. The clinical phenotype associated with …
[PDF][PDF] Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia
I Marin-Valencia, A Gerondopoulos, MS Zaki… - The American Journal of …, 2017 - cell.com
Pontocerebellar hypoplasia (PCH) represents a group of recessive developmental disorders
characterized by impaired growth of the pons and cerebellum, which frequently follows a …
characterized by impaired growth of the pons and cerebellum, which frequently follows a …
Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene
RO Rosti, E Dikoglu, MS Zaki… - American Journal of …, 2016 - Wiley Online Library
Galloway–Mowat syndrome is a rare autosomal‐recessive disorder classically described as
the combination of microcephaly and nephrotic syndrome. Recently, homozygous truncating …
the combination of microcephaly and nephrotic syndrome. Recently, homozygous truncating …
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome
S Roosing, RO Rosti, B Rosti, E de Vrieze, JL Silhavy… - Human genetics, 2016 - Springer
Joubert Syndrome (JS) is an inherited ciliopathy associated with mutations in genes
essential in primary cilium function. Whole exome sequencing in a multiplex …
essential in primary cilium function. Whole exome sequencing in a multiplex …