Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: Additional evidence of a brain phenotype

Further characterization of Shwachman-Diamond syndrome: Psychological functioning and quality of life in adult and young patients

(2012) Sandra Perobelli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

(2011) Yigal Dror et al.   Annals of the New York Academy of Sciences

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

(2011) A. J. Finch et al.   GENES & DEVELOPMENT

Mislocalization or low expression of mutated Shwachman–Bodian–Diamond syndrome protein

(2011) Masafumi Yamaguchi et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Altered Intracellular Localization and Mobility of SBDS Protein upon Mutation in Shwachman-Diamond Syndrome

(2011) Claudia Orelio et al.   PLoS One

Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging

(2010) Jan Booij et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An abrupt developmental shift in callosal modulation of sleep-related spindle bursts coincides with the emergence of excitatory-inhibitory balance and a reduction of somatosensory cortical plasticity.

(2010) Amy Jo Marcano-Reik et al.   BEHAVIORAL NEUROSCIENCE

Ribosomopathies: human disorders of ribosome dysfunction

(2010) A. Narla et al.   BLOOD

Training and plasticity of working memory

(2010) Torkel Klingberg   TRENDS IN COGNITIVE SCIENCES

The macrostructural and microstructural abnormalities of corpus callosum in children with attention deficit/hyperactivity disorder: A combined morphometric and diffusion tensor MRI study

(2009) Qingjiu Cao et al.   BRAIN RESEARCH

Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics

(2009) C. Orelio et al.   HAEMATOLOGICA

The Behavioral Phenotype of School-Age Children with Shwachman Diamond Syndrome Indicates Neurocognitive Dysfunction with Loss of Shwachman-Bodian-Diamond Syndrome Gene Function

(2009) Elizabeth N. Kerr et al.   JOURNAL OF PEDIATRICS

SBDS Expression and Localization at the Mitotic Spindle in Human Myeloid Progenitors

(2009) Claudia Orelio et al.   PLoS One

Shwachman–Diamond syndrome is associated with structural brain alterations on MRI

(2008) Sanna Toiviainen-Salo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

(2008) Karyn M. Austin et al.   JOURNAL OF CLINICAL INVESTIGATION

Corpus callosum morphology in children and adolescents with attention deficit hyperactivity disorder: A meta-analytic review.

(2008) A. D. Hutchinson et al.   NEUROPSYCHOLOGY