Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer

Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer.ClinicalTrials.gov Identifier: NCT01751503; First received: December 11, 2012

Iva Hauptmannova, Royal National Orthopaedic Hospital NHS Trust, London, Middlesex, United Kingdom

Foot drop deformity is a life limiting condition characterized by loss of ankle dorsiflexion and eversion. Main condition leading to drop foot condition include irrecoverable muscle and nerve injuries, poliomyelitis, drug poisoning, strokes, cerebral palsy, Charcot - Marie - Tooth disease, meningomyelocele, club foot, Friedreich's ataxia and Leprosy.

High-performance neuroprosthetic control by an individual with tetraplegia

High-performance neuroprosthetic control by an individual with tetraplegia. Jennifer L Collinger PhD, Brian Wodlinger PhD, John E Downey BS, Wei Wang PhD, Elizabeth C Tyler-Kabara MD, Douglas J Weber PhD, Angus JC McMorland PhD, Meel Velliste PhD, Prof Michael L Boninger MD, Prof Andrew B Schwartz PhD. The Lancet, Early Online Publication, 17 December 2012, doi:10.1016/S0140-6736(12)61816-9


Paralyzed Woman's Mind Controls Robotic Arm. Written by Sarah Glynn, Medical News Today, Article Date: 17 Dec 2012.

A paralyzed woman struggling with Spinocerebellar degeneration has been able to control a robotic prosthetic hand using her thoughts.

The countdown for rare disease strategies is underway

The countdown for rare disease strategies is underway. The Lancet Neurology, Volume 12, Issue 1, Page 1, January 2013

Keywords: Rare Disease Day, national plans and strategies, European Organisation for Rare Diseases (EURODIS), to raise awareness, NEUROMICS project, registries, US National Association for Rare Disorders (NORD), Canadian Organization for Rare Disorders (CORD).

Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation

Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation. Rajesh Verma, Mani Gupta. BMJ Case Reports 2012; doi:10.1136/bcr-2012-007496

Keywords: progressive gait ataxia, type 1 diabetes mellitus, babinski sign, Romberg's sign,deep tendon reflexes, Electrocardiogram, echocardiogram.

TREATMENT OF FRATAXIN (FXN) RELATED DISEASES BY INHIBITION OF NATURAL ANTISENSE TRANSCRIPT TO FXN

TREATMENT OF FRATAXIN (FXN) RELATED DISEASES BY INHIBITION OF NATURAL ANTISENSE TRANSCRIPT TO FXN. CuRNA, Inc.; COLLARD, Joseph;
KHORKOVA SHERMAN, Olga. Patent application number WO2012/170771A1

Functional Consequences of Oculomotor Disorders in Hereditary Cerebellar Ataxias.

Functional Consequences of Oculomotor Disorders in Hereditary Cerebellar Ataxias. Alexandre MF, Rivaud-Péchoux S, Challe G, Durr A, Gaymard B.; Cerebellum. 2012 Dec 14. [Epub ahead of print].

Keywords: Saccadic eye movements, spino-cerebellar and Friedreich ataxia.

Mitochondria in Pediatric Cardiovascular Diseases

Mitochondria in Pediatric Cardiovascular Diseases. José Marín-García M.D.,
Mitochondria and Their Role in Cardiovascular Disease, 2013, pp 245-270

Keywords: cardiac mitochondrial respiratory enzymes, dilated and hypertrophic cardiomyopathy, mitochondrial cardiomyopathy, neurological disorders, cardioneuropathies.

The molecular biology of Friedreich ataxia

JBC Podcasts: The molecular biology of Friedreich ataxia.

Interview of ELENA HIDALGO, Principal Investigator, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain

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Substantia Nigra Echogenicity in Friedreich’s Ataxia Patients

Substantia Nigra Echogenicity in Friedreich’s Ataxia Patients. María Sierra, Jon Infante,
José Berciano. The Cerebellum, December 2012.

Keeywords: substantia nigra (SN) hypoechogenicity, Friedreich’s ataxia (FRDA), restless syndrome (RLS).

[Late-onset Friedreich's ataxia with preservation of osteomuscular reflexes].

[Late-onset Friedreich's ataxia with preservation of osteomuscular reflexes]. Garcia-Estevez DA. Rev Neurol. 2012 Dec 16;55(12):765-7.

[Article in Spanish]