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40
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Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
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URL Address
<a href="http://doi.org/10.1002/mds.21812" target="_blank" rel="noreferrer">http://doi.org/10.1002/mds.21812</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases
Publisher
An entity responsible for making the resource available
Movement Disorders: Official Journal Of The Movement Disorder Society
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
Child; Female; Humans; Male; Adult; Disease Progression; Age Factors; Severity of Illness Index; Magnetic Resonance Imaging; adolescent; Q3 Literature Search; Diagnosis; Differential; Chromosomes; Human; Electroencephalography; Atrophy/complications/pathology; Auditory; Brain Stem/physiology; Brain/pathology/physiopathology; Cerebellar Ataxia/complications/diagnosis; Cerebellum/pathology/physiopathology; Dementia/complications/diagnosis; Dystonia/complications/diagnosis; Electromyography; Evoked Potentials; Evoked Potentials/physiology; Myoclonus/complications/diagnosis; Neuropsychological Tests; Pair 21/genetics; Seizures/complications/diagnosis; Unverricht-Lundborg Syndrome/diagnosis/genetics/physiopathology
Creator
An entity primarily responsible for making the resource
Chew NK; Mir P; Edwards MJ; Cordivari C; Martino D; Schneider SA; Kim HT; Quinn NP; Bhatia KP
Description
An account of the resource
We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.
2008
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/mds.21812" target="_blank" rel="noreferrer">10.1002/mds.21812</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2008
Adolescent
Adult
Age Factors
Atrophy/complications/pathology
Auditory
Backlog
Bhatia KP
Brain Stem/physiology
Brain/pathology/physiopathology
Cerebellar Ataxia/complications/diagnosis
Cerebellum/pathology/physiopathology
Chew NK
Child
Chromosomes
Cordivari C
Dementia/complications/diagnosis
Diagnosis
Differential
Disease Progression
Dystonia/complications/diagnosis
Edwards MJ
Electroencephalography
Electromyography
Evoked Potentials
Evoked Potentials/physiology
Female
Human
Humans
Journal Article
Kim HT
Magnetic Resonance Imaging
Male
Martino D
Mir P
Movement Disorders: Official Journal Of The Movement Disorder Society
Myoclonus/complications/diagnosis
Neuropsychological Tests
Pair 21/genetics
Q3 Scoping Review Results
Quinn NP
Schneider SA
Seizures/complications/diagnosis
Severity Of Illness Index
Unverricht-Lundborg Syndrome/diagnosis/genetics/physiopathology
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1016/j.nmd.2007.06.002" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.nmd.2007.06.002</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
Publisher
An entity responsible for making the resource available
Neuromuscular Disorders
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
Subject
The topic of the resource
Child; Female; Humans; Male; Adult; Middle Aged; Disease Progression; Longitudinal Studies; adolescent; Preschool; Q3 Literature Search; retrospective studies; Age of Onset; Electromyography; Glycogen Storage Disease Type II/diagnosis/physiopathology; Limb-Girdle; Muscle Weakness; Muscular Dystrophies; Respiration Disorders/etiology
Creator
An entity primarily responsible for making the resource
Mueller-Felber W; Horvath R; Gempel K; Podskarbi T; Shin Y; Pongratz D; Walter MC; Baethmann M; Schlotter-Weigel B; Lochmuller H; Schoser B
Description
An account of the resource
To describe the clinical and neurophysiological spectrum and prognosis in a large cohort of biochemically and genetically proven late onset Pompe patients. Thirty-eight diagnosed with late onset Pompe disease at our neuromuscular department during 1985 and 2006 are described in detail. The mean delay from onset of symptoms or first medical consultation until diagnosis was 10.4 and 7.1 years, respectively. A different diagnosis was suggested in 11 of 38 patients. Ten patients underwent repeated muscle biopsies before diagnosis of Pompe disease was established. Limb girdle weakness was the most frequent presenting sign. Six patients complained of myalgia. Wolf-Parkinson-White syndrome was found in 3 of 38 patients. Respiratory failure preceded the onset of overt limb muscle weakness in three patients. The course of the patients was progressive in all, but there was a wide variety of progression, which did not correlate with the age of disease onset. In 71% of the patients, neurophysiological investigations revealed a myopathic EMG pattern, half of the patients had spontaneous activity including complex repetitive discharges. A normal EMG was found in 9% of the patients. Nerve conduction studies were normal in all. Pompe disease should be taken into consideration in patients with unexplained limb girdle muscular weakness with respiratory failure. Cardiac manifestations may not be restricted to infantile Pompe disease.
2007
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.nmd.2007.06.002" target="_blank" rel="noreferrer">10.1016/j.nmd.2007.06.002</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2007
Adolescent
Adult
Age of Onset
Backlog
Baethmann M
Child
Disease Progression
Electromyography
Female
Gempel K
Glycogen Storage Disease Type II/diagnosis/physiopathology
Horvath R
Humans
Journal Article
Limb-Girdle
Lochmuller H
Longitudinal Studies
Male
Middle Aged
Mueller-Felber W
Muscle Weakness
Muscular Dystrophies
Neuromuscular Disorders
Podskarbi T
Pongratz D
Preschool
Q3 Scoping Review Results
Respiration Disorders/etiology
Retrospective Studies
Schlotter-Weigel B
Schoser B
Shin Y
Walter MC
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Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1111/j.1460-9592.2006.01918.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1460-9592.2006.01918.x</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Abdominal pain related to mitochondrial neurogastrointestinal encephalomyopathy syndrome may benefit from splanchnic nerve blockade
Publisher
An entity responsible for making the resource available
Paediatric Anaesthesia
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Humans; Male; Magnetic Resonance Imaging; Nerve Block; Anesthetics; adolescent; Electromyography; Neurologic Examination; Analgesics/therapeutic use; Local; Amines/therapeutic use; Cyclohexanecarboxylic Acids/therapeutic use; gamma-Aminobutyric Acid/therapeutic use; Abdominal Pain/etiology/therapy; Gastrointestinal Diseases/complications/radiography; Mitochondrial Encephalomyopathies/complications/radiography; Paresthesia/etiology; Prilocaine; Splanchnic Nerves
Creator
An entity primarily responsible for making the resource
Celebi N; Sahin A; Canbay O; Uzumcugil F; Aypar U
Description
An account of the resource
Patients diagnosed with abdominal pain related to mitochondrial neurogastrointestinal encephalopathy (MNGIE) may benefit from splanchnic nerve blockade. MNGIE, varying in age of onset and rate of progression, is caused by loss of function mutation in thymidine phosphorylase gene. Gastrointestinal dysmotility, pseudo-obstruction and demyelinating sensorimotor peripheral neuropathy (stocking-glove sensory loss, absent tendon reflexes, distal limb weakness, and wasting) are the most prominent manifestations. Patients usually die in early adulthood (mean 37.6 years; range 26-58 years). We report a case of an 18-year-old patient with MNGIE. Our patient's abdominal pain was relieved after splanchnic nerve blockade.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1460-9592.2006.01918.x" target="_blank" rel="noreferrer">10.1111/j.1460-9592.2006.01918.x</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2006
Abdominal Pain/etiology/therapy
Adolescent
Amines/therapeutic use
Analgesics/therapeutic use
Anesthetics
Aypar U
Backlog
Canbay O
Celebi N
Cyclohexanecarboxylic Acids/therapeutic use
Electromyography
gamma-Aminobutyric Acid/therapeutic use
Gastrointestinal Diseases/complications/radiography
Humans
Journal Article
Local
Magnetic Resonance Imaging
Male
Mitochondrial Encephalomyopathies/complications/radiography
Nerve Block
Neurologic Examination
Paediatric Anaesthesia
Paresthesia/etiology
Prilocaine
Sahin A
Splanchnic Nerves
Uzumcugil F
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Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/mus.10507" target="_blank" rel="noreferrer">http://doi.org/10.1002/mus.10507</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Prevalence and progression of mitochondrial diseases: a study of 50 patients
Publisher
An entity responsible for making the resource available
Muscle & Nerve
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Female; Humans; Male; Adult; Aged; Middle Aged; Disease Progression; Survival Analysis; Phenotype; adolescent; IM; Age of Onset; Electromyography; Chronic Progressive External/ep [Epidemiology]; Chronic Progressive External/ge [Genetics]; Chronic Progressive External/pa [Pathology]; DNA; Epilepsies; Lactic Acid/bl [Blood]; MELAS Syndrome/ep [Epidemiology]; MELAS Syndrome/ge [Genetics]; MELAS Syndrome/pa [Pathology]; Mitochondrial Diseases/ep [Epidemiology]; Mitochondrial Diseases/ge [Genetics]; Mitochondrial Diseases/pa [Pathology]; Mitochondrial/ge [Genetics]; Muscle; Myoclonic/ep [Epidemiology]; Myoclonic/ge [Genetics]; Myoclonic/pa [Pathology]; Neural Conduction/ph [Physiology]; Ophthalmoplegia; Skeletal/pa [Pathology]; Spain/ep [Epidemiology]
Creator
An entity primarily responsible for making the resource
Arpa J; Cruz-Martinez A; Campos Y; Gutierrez-Molina M; Garcia-Rio F; Perez-Conde C; Martin MA; Rubio JC; Del Hoyo P; Arpa-Fernandez A; Arenas J
Description
An account of the resource
We report 50 patients with various clinical phenotypes of mitochondrial disease studied over the past 10 years in a large urban area (Madrid Health Area 5). The clinical phenotypes showed a large variety of abnormalities in molecular biology and biochemistry. The prevalence of mitochondrial diseases was found to be 5.7 per 100,000 in the population over 14 years of age. Clinical and electrophysiological assessment reveal signs of neuropathy in 10 patients. Electromyographic findings consistent with myopathy were obtained in 37 cases. Six patients died of medical complications. Disease phenotype influenced survival to some degree (P < 0.01). Age of onset and gender were not associated with differences in survival. Mitochondrial disease is thus far more common than expected and a common cause of chronic morbidity.
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/mus.10507" target="_blank" rel="noreferrer">10.1002/mus.10507</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2003
Adolescent
Adult
Age of Onset
Aged
Arenas J
Arpa J
Arpa-Fernandez A
Backlog
Campos Y
Chronic Progressive External/ep [Epidemiology]
Chronic Progressive External/ge [Genetics]
Chronic Progressive External/pa [Pathology]
Cruz-Martinez A
Del Hoyo P
Disease Progression
DNA
Electromyography
Epilepsies
Female
Garcia-Rio F
Gutierrez-Molina M
Humans
IM
Journal Article
Lactic Acid/bl [Blood]
Male
Martin MA
MELAS Syndrome/ep [Epidemiology]
MELAS Syndrome/ge [Genetics]
MELAS Syndrome/pa [Pathology]
Middle Aged
Mitochondrial Diseases/ep [Epidemiology]
Mitochondrial Diseases/ge [Genetics]
Mitochondrial Diseases/pa [Pathology]
Mitochondrial/ge [Genetics]
Muscle
Muscle & Nerve
Myoclonic/ep [Epidemiology]
Myoclonic/ge [Genetics]
Myoclonic/pa [Pathology]
Neural Conduction/ph [Physiology]
Ophthalmoplegia
Perez-Conde C
Phenotype
Rubio JC
Skeletal/pa [Pathology]
Spain/ep [Epidemiology]
Survival Analysis