Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism

(2013) Martial Mallaret et al.   JOURNAL OF NEUROLOGY

A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: A case report with literature review

(2013) Li Cao et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15

(2013) Jennifer Hirst et al.   MOLECULAR BIOLOGY OF THE CELL

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

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novelFA2Hmutation

(2012) A. Tonelli et al.   EUROPEAN JOURNAL OF NEUROLOGY

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

(2012) Josef Finsterer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Genetics of Hereditary Spastic Paraplegias

(2012) Rebecca Schüle et al.   SEMINARS IN NEUROLOGY

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

(2011) Tyler Mark Pierson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Atypical juvenile parkinsonism in a consanguineous SPG15 family

(2011) Julia Schicks et al.   MOVEMENT DISORDERS

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

(2010) Katherine J. Dick et al.   HUMAN MUTATION

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

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

(2010) Mikołaj Słabicki et al.   PLOS BIOLOGY

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

(2009) A Boukhris et al.   CLINICAL GENETICS

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

(2009) C Crimella et al.   JOURNAL OF MEDICAL GENETICS

SPG11 spastic paraplegia

(2009) Mathieu Anheim et al.   JOURNAL OF NEUROLOGY

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

(2009) R Schule et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

(2009) C. Goizet et al.   NEUROLOGY

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

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

(2008) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hereditary Spastic Paraplegia With Mental Impairment and Thin Corpus Callosum in Tunisia

(2008) Amir Boukhris et al.   ARCHIVES OF NEUROLOGY

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

(2008) T. Pippucci et al.   EUROPEAN JOURNAL OF NEUROLOGY

Screening of ARHSP-TCC patients expands the spectrum ofSPG11mutations and includes a large scale gene deletion

(2008) Paola S. Denora et al.   HUMAN MUTATION

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum

(2008) Shu-sheng Liao et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

(2008) Paola S. Denora et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Two novel mutations in theSPG11gene causing hereditary spastic paraplegia associated with thin corpus callosum

(2008) Shu-Shan Zhang et al.   MOVEMENT DISORDERS

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23

(2008) K. J. Dick et al.   NEUROLOGY