Related references
Note: Only part of the references are listed.Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review
Claudia Castiglioni et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2015)
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Koelker et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2015)
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia
Dahlia Kancheva et al.
MOVEMENT DISORDERS (2015)
The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms
Jin-Sung Park et al.
MOVEMENT DISORDERS (2015)
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Andrea Legati et al.
NATURE GENETICS (2015)
SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group
Jose Luiz Pedroso et al.
PARKINSONISM & RELATED DISORDERS (2015)
ELOVLS Mutations Cause Spinocerebellar Ataxia 38
Eleonora Di Gregorio et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
Jerome Delplanque et al.
BRAIN (2014)
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
Joanne Ng et al.
BRAIN (2014)
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia
Gael Nicolas et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
C19orf12 mutation leads to a pallido-pyramidal syndrome
Michael C. Kruer et al.
GENE (2014)
Genetic Screening and Functional Characterization of PDGFRB Mutations Associated with Basal Ganglia Calcification of Unknown Etiology
Monica Sanchez-Contreras et al.
HUMAN MUTATION (2014)
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction
Talya Dor et al.
JOURNAL OF MEDICAL GENETICS (2014)
A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation
Katsuya Nishida et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2014)
PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease
M. A. Illingworth et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Guidelines for investigating causality of sequence variants in human disease
D. G. MacArthur et al.
NATURE (2014)
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
Mike A. Nalls et al.
NATURE GENETICS (2014)
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
Davina J. Hensman Moss et al.
NEUROLOGY (2014)
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Gaia Novarino et al.
SCIENCE (2014)
Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease and GBA Heterozygotes
Roy N. Alcalay et al.
JAMA NEUROLOGY (2014)
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11
Benoit Renvoise et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2014)
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms
John K. Fink
ACTA NEUROPATHOLOGICA (2013)
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
Elodie Martin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Emily C. Oates et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
Amir Boukhris et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia
Joshua Hersheson et al.
ANNALS OF NEUROLOGY (2013)
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
Susan J. Hayflick et al.
BRAIN (2013)
Newly Characterized Forms of Neurodegeneration with Brain Iron Accumulation
Joshua M. Doorn et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2013)
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)
Michael Gonzalez et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism
Marialuisa Quadri et al.
HUMAN MUTATION (2013)
The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures
Catharine E. Krebs et al.
HUMAN MUTATION (2013)
Phenomenology and classification of dystonia: A consensus update
Alberto Albanese et al.
MOVEMENT DISORDERS (2013)
Mutations in GNAL cause primary torsion dystonia
Tania Fuchs et al.
NATURE GENETICS (2013)
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Annika Keller et al.
NATURE GENETICS (2013)
Advances in the genetics of Parkinson disease
Joanne Trinh et al.
NATURE REVIEWS NEUROLOGY (2013)
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Sandy Chan Hsu et al.
NEUROGENETICS (2013)
New NBIA subtype Genetic, clinical, pathologic, and radiographic features of MPAN
Penelope Hogarth et al.
NEUROLOGY (2013)
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification
Gael Nicolas et al.
NEUROLOGY (2013)
Genetics in dystonia
Christine Klein
PARKINSONISM & RELATED DISORDERS (2013)
Genetics of Parkinson's disease – state of the art, 2013
Vincenzo Bonifati
PARKINSONISM & RELATED DISORDERS (2013)
VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families
Cynthia V. Bourassa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis
Danit Oz-Levi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
Janneke H. M. Schuurs-Hoeijmakers et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia
Christelle Tesson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man
Karin Tuschl et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
Tobias B. Haack et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy
Jennifer Friedman et al.
ANNALS OF NEUROLOGY (2012)
Mutations in KCND3 Cause Spinocerebellar Ataxia Type 22
Yi-Chung Lee et al.
ANNALS OF NEUROLOGY (2012)
Dopa-Responsive Dystonia Revisited Diagnostic Delay, Residual Signs, and Nonmotor Signs
Vera Tadic et al.
ARCHIVES OF NEUROLOGY (2012)
Autosomal Dominant Familial Dyskinesia and Facial Myokymia Single Exome Sequencing Identifies a Mutation in Adenylyl Cyclase 5
Ying-Zhang Chen et al.
ARCHIVES OF NEUROLOGY (2012)
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy
Juliane Winkelmann et al.
HUMAN MOLECULAR GENETICS (2012)
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12
Gladys Montenegro et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia
Thomas Opladen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
Haruo Shimazaki et al.
JOURNAL OF MEDICAL GENETICS (2012)
The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients
Kavi P. Patel et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA): an Update on Clinical Presentations, Histological and Genetic Underpinnings, and Treatment Considerations
Susanne A. Schneider et al.
MOVEMENT DISORDERS (2012)
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome
Ainhi D. Ha et al.
MOVEMENT DISORDERS (2012)
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency
Mercedes Serrano et al.
MOVEMENT DISORDERS (2012)
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
Cheng Wang et al.
NATURE GENETICS (2012)
PRRT2 gene mutations From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine
Alice R. Gardiner et al.
NEUROLOGY (2012)
Fixing the broken system of genetic locus symbols Parkinson disease and dystonia as examples
Connie Marras et al.
NEUROLOGY (2012)
A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism
Simon Edvardson et al.
PLOS ONE (2012)
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database
Christina M. Lill et al.
PLOS GENETICS (2012)
Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
Monika B. Hartig et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement
Hatasu Kobayashi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
Rami Abou Jamra et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
VPS35 Mutations in Parkinson Disease
Carles Vilarino-Gueell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis
Yaniv Erlich et al.
GENOME RESEARCH (2011)
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures
Yeserin Yildirim et al.
HUMAN MOLECULAR GENETICS (2011)
REEP1 Mutations in SPG31: Frequency, Mutational Spectrum, and Potential Association with Mitochondrial Morpho-Functional Dysfunction
Cyril Goizet et al.
HUMAN MUTATION (2011)
Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden-Spatz Syndrome
Chloe Miu Mak et al.
INTERNATIONAL JOURNAL OF NEUROSCIENCE (2011)
Diagnosis and management of glutaric aciduria type I - revised recommendations
Stefan Koelker et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability
Andres Moreno-De-Luca et al.
JOURNAL OF MEDICAL GENETICS (2011)
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study
Manju A. Kurian et al.
LANCET NEUROLOGY (2011)
Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene
Catherine Brunel-Guitton et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Clinical and Biochemical Characterization of Patients with Early Infantile Onset of Autosomal Recessive GTP Cyclohydrolase I Deficiency without Hyperphenylalaninemia
Thomas Opladen et al.
MOVEMENT DISORDERS (2011)
Atypical Juvenile Parkinsonism in a Consanguineous SPG15 Family
Julia Schicks et al.
MOVEMENT DISORDERS (2011)
Movement Disorders in Spinocerebellar Ataxias
Judith van Gaalen et al.
MOVEMENT DISORDERS (2011)
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
Wan-Jin Chen et al.
NATURE GENETICS (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
Neuroacanthocytosis Syndromes
Hans H. Jung et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
Genetics of the Dominant Ataxias
Dineke S. Verbeek et al.
SEMINARS IN NEUROLOGY (2011)
Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23
Georgy Bakalkin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA)
Michael C. Kruer et al.
ANNALS OF NEUROLOGY (2010)
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Wilhelmina G. Leen et al.
BRAIN (2010)
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
Jun Ling Wang et al.
BRAIN (2010)
Pediatric-Onset Dystonia Associated with Bilateral Striatal Necrosis and G14459A Mutation in a Korean Family: A Case Report
In-Suk Kim et al.
JOURNAL OF KOREAN MEDICAL SCIENCE (2010)
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
Daniela Di Bella et al.
NATURE GENETICS (2010)
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
L. Brun et al.
NEUROLOGY (2010)
A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia
Mikolaj Slabicki et al.
PLOS BIOLOGY (2010)
Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy
Annemieke J. M. H. Verkerk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Spinocerebellar Ataxia Type 31 Is Associated with Inserted Penta-Nucleotide Repeats Containing (TGGAA)n
Nozomu Sato et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Characterization of PLA2G6 as a Locus for Dystonia-Parkinsonism
Coro Paisan-Ruiz et al.
ANNALS OF NEUROLOGY (2009)
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I
Inga Harting et al.
BRAIN (2009)
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case
Aurore Carre et al.
HUMAN MOLECULAR GENETICS (2009)
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children
Eva Morava et al.
MITOCHONDRION (2009)
Novel GFAP Mutation in Patient with Adult-Onset Alexander Disease Presenting with Spastic Ataxia
Hiroyuki Kaneko et al.
MOVEMENT DISORDERS (2009)
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
Tania Fuchs et al.
NATURE GENETICS (2009)
Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
Anas M. Alazami et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia
Simon Edvardson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
Maria K. Tsaousidou et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 KSNP arrays
Seyedmehdi Shojaee et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
Sylvain Hanein et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Neuropathy target esterase gene mutations cause motor neuron disease
Shirley Rainier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Hereditary Episodic Ataxias
Joanna C. Jen
YEAR IN NEUROLOGY 2008 (2008)
Aicardi-Goutieres syndrome (AGS)
John B. P. Stephenson
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2008)
The neurological presentation of ceruloplasmin gene mutations
Alisdair McNeill et al.
EUROPEAN NEUROLOGY (2008)
Movement disorders and inborn errors of metabolism in adults: A diagnostic approach
F. Sedel et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
DYT16, a novel young-onset dystonia-parkinson ism disorder:: identification of a segregating mutation in the stress-response protein PRKRA
Sarah Camargos et al.
LANCET NEUROLOGY (2008)
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms
Sara Salinas et al.
LANCET NEUROLOGY (2008)
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms
Gabriella A. Horvath et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Spectrum of Movement Disorders Associated with Glutaric Aciduria Type 1: A Study of 16 Patients
Cyril Gitiaux et al.
MOVEMENT DISORDERS (2008)
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review
Susanne A. Schneider et al.
MOVEMENT DISORDERS (2008)
Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
A. Iwaki et al.
JOURNAL OF MEDICAL GENETICS (2008)
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21
G. Stevanin et al.
NEUROLOGY (2007)
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
Rosalba Carrozzo et al.
BRAIN (2007)
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
Elsebet Ostergaard et al.
BRAIN (2007)
Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism
Satoshi Makino et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1
Abdulaziz Al-Semari et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test
Susanne A. Schneider et al.
NATURE CLINICAL PRACTICE NEUROLOGY (2007)
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
Paul N. Valdmanis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
Joyce van de Leemput et al.
PLOS GENETICS (2007)
Phenotypic homogeneity of the Huntington disease - like presentation in a SCA17 family
S. A. Schneider et al.
NEUROLOGY (2006)
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
Alfredo Ramirez et al.
NATURE GENETICS (2006)
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31
Stephan Zuchner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia
Ashraf U. Mannan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Neil V. Morgan et al.
NATURE GENETICS (2006)
Delineation of the motor disorder of Lesch-Nyhan disease
HA Jinnah et al.
BRAIN (2006)
Spectrin mutations cause spinocerebellar ataxia type 5
Y Ikeda et al.
NATURE GENETICS (2006)
Dystonia and parkinsonism in GM1 type 3 gangliosidosis
E Roze et al.
MOVEMENT DISORDERS (2005)
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
JC Jen et al.
NEUROLOGY (2005)
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
WQ Zeng et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
C Windpassinger et al.
NATURE GENETICS (2004)
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)
JRM Oliveira et al.
NEUROLOGY (2004)
Mutations in the Na+/K+-ATPase α3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
PD Aguiar et al.
NEURON (2004)
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis
S Rainier et al.
ARCHIVES OF NEUROLOGY (2004)
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene
AM Dumitrescu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
C Paisán-Ruíz et al.
NEURON (2004)
Clinical features of adult GM1 gangliosidosis:: Report of three Indian patients and review of 40 cases
U Muthane et al.
MOVEMENT DISORDERS (2004)
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
EM Valente et al.
SCIENCE (2004)
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
S Rainier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
N Tayebi et al.
MOLECULAR GENETICS AND METABOLISM (2003)
Missense mutations in the regulatory domain of PKCγ:: A new mechanism for dominant nonepisodic cerebellar ataxia
DH Chen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease)
M Segawa et al.
ANNALS OF NEUROLOGY (2003)
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia
JC van Swieten et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
MA Simpson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
E Reid et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
E Eymard-Pierre et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60
JJ Hansen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Mutations in TITF-1 are associated with benign hereditary chorea
GJ Breedveld et al.
HUMAN MOLECULAR GENETICS (2002)
Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism
DE Shan et al.
ANNALS OF NEUROLOGY (2001)
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
XP Zhao et al.
NATURE GENETICS (2001)
Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome
A Zimprich et al.
NATURE GENETICS (2001)
A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
RL Margolis et al.
ANNALS OF NEUROLOGY (2001)
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
B Zhou et al.
NATURE GENETICS (2001)
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
L Bonafé et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
ARJ Curtis et al.
NATURE GENETICS (2001)
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
G Van Goethem et al.
NATURE GENETICS (2001)
The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
S Ueno et al.
NATURE GENETICS (2001)
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
L Rampoldi et al.
NATURE GENETICS (2001)
The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (β-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients
T Fukao et al.
MOLECULAR GENETICS AND METABOLISM (2001)
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease
M Brenner et al.
NATURE GENETICS (2001)
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
T Matsuura et al.
NATURE GENETICS (2000)
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome
L Tranebjærg et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)