Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Hereditary ataxias and paraparesias

(2018) Livia Parodi et al.   CURRENT OPINION IN NEUROLOGY

Identification of specific gait patterns in patients with cerebellar ataxia, spastic paraplegia, and Parkinson’s disease: A non-hierarchical cluster analysis

(2018) Mariano Serrao et al.   HUMAN MOVEMENT SCIENCE

Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST

(2018) Meredith K. Gillespie et al.   JOURNAL OF CHILD NEUROLOGY

Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients

(2018) Cong Lu et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

(2018) En-Lin Dong et al.   Molecular Neurodegeneration

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes

(2018) Lorena Travaglini et al.   NEUROGENETICS

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review

(2018) Francesco Mari et al.   NEUROGENETICS

Erratum: Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

(2017) Bart P van de Warrenburg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

(2017) Sara Morais et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1

(2017) Anna Rubegni et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Truncating mutations inSPASTpatients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

(2017) Viorica Chelban et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

New genetic causes for complex hereditary spastic paraplegia

(2017) Paulo Victor Sgobbi de Souza et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing

(2017) Anna Rubegni et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis

(2017) Daniele Galatolo et al.   NEUROGENETICS

Multigeneration family with dominant SPG30 hereditary spastic paraplegia

(2017) Ricardo H. Roda et al.   Annals of Clinical and Translational Neurology

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

(2017) Zafar Iqbal et al.   PLoS One

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

(2016) Rebecca Schüle et al.   ANNALS OF NEUROLOGY

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

(2016) Eleanna Kara et al.   BRAIN

Identification of mutations inAP4S1/SPG52 through next generation sequencing in three families

(2016) A. Tessa et al.   EUROPEAN JOURNAL OF NEUROLOGY

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family

(2016) Luca Leonardi et al.   JOURNAL OF NEUROLOGY

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28

(2016) Andrea Mignarri et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary — An analysis of 58 probands

(2016) Peter Balicza et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Assessment of the latest NGS enrichment capture methods in clinical context

(2016) Gema García-García et al.   Scientific Reports

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

(2016) Andrea Martinuzzi et al.   PLoS One

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

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

(2015) Daliya Kancheva et al.   GENETICS IN MEDICINE

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

Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

(2015) Michael Gonzalez et al.   HUMAN MUTATION

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

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

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

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

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

(2013) C. Bettencourt et al.   CLINICAL GENETICS

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

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

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

(2012) Janneke H.M. Schuurs-Hoeijmakers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry

(2012) Richard H. Roxburgh et al.   JOURNAL OF NEUROLOGY

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

(2012) Ettore Salsano et al.   Orphanet Journal of Rare Diseases

Targeted enrichment of genomic DNA regions for next-generation sequencing

(2011) F. Mertes et al.   Briefings in Functional Genomics

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

Targeted resequencing of candidate genes using selector probes

(2010) H. Johansson et al.   NUCLEIC ACIDS RESEARCH

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

(2008) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS