ALS5/SPG11/KIAA1840mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

(2015) Nivedita U. Jerath et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

(2015) Davut Pehlivan et al.   HUMAN GENETICS

A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease

(2014) Gen Tamiya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

(2014) Ellen Cottenie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2014) Viviana Pensato et al.   BRAIN

Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide

(2014) A. Tessa et al.   CURRENT MOLECULAR MEDICINE

Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

(2014) Ronen Spiegel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The blurred scenario of motor neuron disorders linked toSpatacsinmutations: a case report

(2014) G. Querin et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

(2014) Francesc Pérez-Brangulí et al.   HUMAN MOLECULAR GENETICS

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

Hereditary motor and sensory neuropathies or Charcot–Marie–Tooth diseases: An update

(2014) Meriem Tazir et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novelGJB1mutation

(2014) Anna Sagnelli et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

The spectrum of axonopathies: From CMT2 to HSP

(2014) V. Fridman et al.   NEUROLOGY

HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum

(2014) B. Gess et al.   NEUROLOGY

Inherited peripheral neuropathies due to mitochondrial disorders

(2014) J. Cassereau et al.   REVUE NEUROLOGIQUE

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

(2013) Monia B. Hammer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) C. Bettencourt et al.   CLINICAL GENETICS

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12

(2013) Guida Landouré et al.   HUMAN MUTATION

Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes

(2013) Meriem Tazir et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

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

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

The Role of Reticulons in Neurodegenerative Diseases

(2013) Valerio Chiurchiù et al.   NEUROMOLECULAR MEDICINE

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

(2012) Christelle Tesson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features

(2012) L. Leonardis et al.   EUROPEAN JOURNAL OF NEUROLOGY

Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias

(2012) Vincent Timmerman et al.   EXPERIMENTAL NEUROLOGY

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

(2012) Magdalena Zimoń et al.   NATURE GENETICS

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish

(2012) Elodie Martin et al.   NEUROBIOLOGY OF DISEASE

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2

(2011) C Crimella et al.   CLINICAL GENETICS

A novel myelin protein zero (V136G) homozygous mutation causing late onset demyelinating polyneuropathy with brain white matter lesions

(2011) K. Reyes-Marin et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

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

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

(2011) Sinéad M. Murphy et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

MFN2 mutations cause severe phenotypes in most patients with CMT2A

(2011) S. M. E. Feely et al.   NEUROLOGY

Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot–Marie–Tooth type 2

(2011) Adriana Borges Genari et al.   NEUROMUSCULAR DISORDERS

Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A

(2011) L. J. Byrnes et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

(2010) Christian Guelly et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

(2010) Duane L. Guernsey et al.   PLoS Genetics

A novel recessiveNeflmutation causes a severe, early-onset axonal neuropathy

(2009) Sabrina W. Yum et al.   ANNALS OF NEUROLOGY

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation

(2009) Carlo Fusco et al.   BRAIN & DEVELOPMENT

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

(2009) Alejandro Leal et al.   NEUROGENETICS

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

Seipinopathy: a novel endoplasmic reticulum stress-associated disease

(2008) Daisuke Ito et al.   BRAIN

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)

(2008) C. Paisan-Ruiz et al.   EUROPEAN JOURNAL 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

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

(2008) Cyril Goizet et al.   HUMAN MUTATION

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

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

Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum

(2008) M-J Lee et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Severe early-onset axonal neuropathy with homozygous and compound heterozygousMFN2mutations

(2008) G. A. Nicholson et al.   NEUROLOGY

Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4

(2008) A. Orlacchio et al.   NEUROLOGY

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

(2008) H. Houlden et al.   NEUROLOGY