PTRHD1(C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

(2016) Suzanne Lesage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tatton-Brown-Rahman syndrome due to 2p23 microdeletion

(2016) Nobuhiko Okamoto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Gain-of-Function Mutations inRARBCause Intellectual Disability with Progressive Motor Impairment

(2016) Myriam Srour et al.   HUMAN MUTATION

Mutation inADORA1identified as likely cause of early-onset parkinsonism and cognitive dysfunction

(2016) Elham Jaberi et al.   MOVEMENT DISORDERS

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

(2014) Gabrielle R. Wilson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1

(2014) Mercedes Bloch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Variable phenotypic expression in families with early-onset Parkinsonism due to PRKN mutations

(2014) Siamak Karkheiran et al.   JOURNAL OF NEUROLOGY

The Sac1 Domain ofSYNJ1Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

(2013) Catharine E. Krebs et al.   HUMAN MUTATION

A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy

(2012) Moneef Shoukier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism

(2012) Maria Santa Rocca et al.   European Journal of Medical Genetics

Homozygous deletion of an 80kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy

(2012) Virginie Vauthier et al.   MOLECULAR GENETICS AND METABOLISM

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability

(2012) Çiğdem Köroğlu et al.   PARKINSONISM & RELATED DISORDERS

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

(2012) Simon Edvardson et al.   PLoS One

Atypical juvenile parkinsonism in a consanguineous SPG15 family

(2011) Julia Schicks et al.   MOVEMENT DISORDERS

De Novo Interstitial Deletion of Chromosome 2 (p23p24)

(2011) Pen-Hua Su et al.   Pediatrics and Neonatology

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

(2010) Maila Giannandrea et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

(2010) Coro Paisán-Ruiz et al.   MOVEMENT DISORDERS

Genome-wide Linkage Analysis of a Parkinsonian-Pyramidal Syndrome Pedigree by 500 K SNP Arrays

(2008) Seyedmehdi Shojaee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

(2008) Coro Paisan-Ruiz et al.   ANNALS OF NEUROLOGY

Parkinson's disease: clinical features and diagnosis

(2008) J Jankovic   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY