ALS and CHARGE syndrome: a clinical and genetic study

Hot-spot KIF5A mutations cause familial ALS

(2018) David Brenner et al.   BRAIN

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

(2018) Amanda Moccia et al.   GENETICS IN MEDICINE

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

(2018) Olatz Villate et al.   Frontiers in Genetics

Edaravone for treatment of early-stage ALS – Authors' reply

(2017) Makoto Akimoto et al.   LANCET NEUROLOGY

Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome

(2017) Andre Wineland et al.   JAMA Otolaryngology-Head & Neck Surgery

Amyotrophic lateral sclerosis: moving towards a new classification system

(2016) Ammar Al-Chalabi et al.   LANCET NEUROLOGY

Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome

(2016) Hyung Young Kim et al.   PEDIATRIC PULMONOLOGY

Atypical phenotypes associated with pathogenicCHD7variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

(2015) Caitlin L. Hale et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

(2015) Elisa Pisaneschi et al.   BMC Medical Genetics

CHARGE syndrome: a review of the immunological aspects

(2015) Monica TY Wong et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients

(2015) Young Bae Sohn et al.   JOURNAL OF HUMAN GENETICS

Pocketing of food in cheeks during eating in an adolescent with CHARGE syndrome

(2015) Alexandra Hudson et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Molecular classification of amyotrophic lateral sclerosis by unsupervised clustering of gene expression in motor cortex

(2015) Eleonora Aronica et al.   NEUROBIOLOGY OF DISEASE

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness

(2014) M. Muglia et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The role of genetics in the establishment and maintenance of the epigenome

(2013) Covadonga Huidobro et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience

(2012) Jeffrey A. Brown et al.   Amyotrophic Lateral Sclerosis

Oxidative stress induces DNA demethylation and histone acetylation in SH-SY5Y cells: potential epigenetic mechanisms in gene transcription in Aβ production

(2012) Xinling Gu et al.   NEUROBIOLOGY OF AGING

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

(2012) F. L. Conforti et al.   NEUROLOGY

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

(2011) J. E. H. Bergman et al.   JOURNAL OF MEDICAL GENETICS

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Molecular and phenotypic aspects ofCHD7mutation in CHARGE syndrome

(2010) Gabriel E. Zentner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques

(2009) Anna Rohlin et al.   HUMAN MUTATION

Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies

(2009) Rocio G Urdinguio et al.   LANCET NEUROLOGY

Amyotrophic lateral sclerosis

(2009) Lokesh C Wijesekera et al.   Orphanet Journal of Rare Diseases

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Mutations inCHD7in patients with CHARGE syndrome cause TBnatural killer cellsevere combined immune deficiency and may cause Omenn-like syndrome

(2008) A. R. Gennery et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY