Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene

(2017) M. Krenn et al.   EUROPEAN JOURNAL OF NEUROLOGY

Novel UCHL1 mutations reveal new insights into ubiquitin processing

(2017) Siri L. Rydning et al.   HUMAN MOLECULAR GENETICS

Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)

(2017) Gerald Salen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach

(2017) Daniela Burguez et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways

(2017) Matthis Synofzik et al.   MOVEMENT DISORDERS

Hereditary spastic paraplegia: More than an upper motor neuron disease

(2017) L. Parodi et al.   REVUE NEUROLOGIQUE

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

(2017) Zafar Iqbal et al.   PLoS One

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

(2017) Chong Kun Cheon et al.   Scientific Reports

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

(2016) Eleanna Kara et al.   BRAIN

Mutations in the IRBIT domain ofITPR1are a frequent cause of autosomal dominant nonprogressive congenital ataxia

(2016) S. Barresi et al.   CLINICAL GENETICS

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

(2016) Sven Günther et al.   HUMAN MUTATION

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

(2016) Leslie Hotchkiss et al.   JOURNAL OF CHILD NEUROLOGY

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

(2015) Emil Ylikallio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing

(2015) David S Lynch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

(2015) Chihiro Ohba et al.   JOURNAL OF HUMAN GENETICS

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

(2015) Andrea Citterio et al.   JOURNAL OF NEUROLOGY

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients

(2015) Ewelina Elert-Dobkowska et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

(2015) S. Klebe et al.   REVUE NEUROLOGIQUE

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing

(2015) Alexander P. Drew et al.   Molecular Genetics & Genomic Medicine

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

(2014) Jae-Ran Lee et al.   HUMAN MUTATION

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10: Table 1

(2014) Laura Carosi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8

(2014) Amir Jahic et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

(2013) Kevin P Kenna et al.   JOURNAL OF MEDICAL GENETICS

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

(2013) Kishore R. Kumar et al.   JOURNAL OF NEUROLOGY

Type 1 Inositol Trisphosphate Receptor Regulates Cerebellar Circuits by Maintaining the Spine Morphology of Purkinje Cells in Adult Mice

(2013) T. Sugawara et al.   JOURNAL OF NEUROSCIENCE

Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in theCYP27A1gene associated with premature age-associated limbic tauopathy

(2013) I. Kapás et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

(2012) Stephan Klebe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

(2012) Lijia Huang et al.   Orphanet Journal of Rare Diseases

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

(2011) Jean-Baptiste Rivière et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

(2011) Cecilia Marelli et al.   ARCHIVES OF NEUROLOGY

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

(2011) Y. Erlich et al.   GENOME RESEARCH

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features

(2011) M. Synofzik et al.   JOURNAL OF MEDICAL GENETICS

The distal hereditary motor neuropathies

(2011) Alexander M Rossor et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals

(2011) Anna Sulek et al.   NEUROLOGICAL SCIENCES

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin

(2009) Giovanni Airoldi et al.   NEUROGENETICS